id category name description provided_by synonym 0000231 0000589 0100001 Date comment consider created_by creation_date deprecated has_alternative_id has_db_xref has_o_b_o_format_version homepage is_class_level is_metadata_tag knowledge_source license logical_interpretation mondo#excluded_synonym mondo#pathogenesis mondo#related object predicate relation see_also shorthand source subject type MONDO:0005352 biolink:NamedThing conduct disorder A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. mondoexuq1wtf ICD10:F91|EFO:0004216|ICD10:F91.9|SCTID:430909002|MESH:D019955|ICD9:312.9|DOID:12995|COHD:443617|NCIT:C89329|ICD9:312.89 owl:Class MONDO:0000592 biolink:NamedThing specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. mondoexuq1wtf specific developmental disorder|specific delays in development ICD9:315.8|SCTID:10720004|DOID:0060038 owl:Class MONDO:0019098 biolink:NamedThing autoimmune thrombocytopenia An autoimmune form of thrombocytopenia. mondoexuq1wtf UMLS:C0242584|ICD10:D69.3|SCTID:128091003|Orphanet:71203|MedDRA:10050245 owl:Class MONDO:0002049 biolink:NamedThing thrombocytopenia A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. mondoexuq1wtf platelet count decreased|thrombocytopenic disorder DOID:1588|UMLS:C0040034|MESH:D013921|SCTID:302215000|NCIT:C3408|UMLS:CN130080|ICD10:D69.6|ICD9:287.5 owl:Class MONDO:0008952 biolink:NamedThing cerebrofaciothoracic dysplasia Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. mondoexuq1wtf pascual-Castroviejo syndrome type 1|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|pascual-Castroviejo syndrome|CFSMR|cerebro facio thoracic dysplasia|cerebrofaciothoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome OMIM:213980|MESH:C565862|Orphanet:1394|SCTID:720635002|ICD10:Q87.5|GARD:0001210 https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia owl:Class MONDO:0002320 biolink:NamedThing congenital nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. mondoexuq1wtf congenital neurologic anomaly|congenital abnormality of the nervous system|congenital nervous system disorder DOID:2490|NCIT:C97172|ICD9:742 owl:Class MONDO:0001762 biolink:NamedThing dentine erosion A tooth erosion, non-bacterial that involves the dentine. mondoexuq1wtf tooth erosion, non-bacterial of dentine|dentine tooth erosion, non-bacterial ICD9:521.32|DOID:13629 owl:Class MONDO:0003900 biolink:NamedThing connective tissue disease A disease involving the connective tissue. mondoexuq1wtf disorder of connective tissue|connective tissue disorder|connective tissue disease or disorder|connective tissue disease|disease or disorder of connective tissue|tissue disease, connective|connective tissue disorders|primary disorder of connective tissue|disease of connective tissue|disease, connective tissue|connective tissue diseases NCIT:C26729|UMLS:C0009782|MESH:D003240|DOID:65|SCTID:105969002|COHD:253549 https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0004803 biolink:NamedThing disseminated eosinophilic collagen disease mondoexuq1wtf ICD9:710.8|DOID:9499|UMLS:C0263662|SCTID:423486005 owl:Class MONDO:0015691 biolink:NamedThing hypereosinophilic syndrome Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. mondoexuq1wtf hypereosinophilic disorder|eosinophilia|eosinophilic leukocytosis|hypereosinophilic syndrome|hypereosinophilic disease|HES Orphanet:168956|NCIT:C27038|GARD:0002804|MedDRA:10048643|MESH:D017681|ICD10:D72.1|ICD9:288.3|UMLS:C1540912|EFO:1001467|ICDO:9964/3|ICD10:D47.5|SCTID:419455006|DOID:999 owl:Class MONDO:0010901 biolink:NamedThing HEC syndrome HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. mondoexuq1wtf hydrocephalus, endocardial fibroelastosis, and cataracts|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts|HEC syndrome|hydrocephalus-endocardial fibroelastosis-cataract syndrome Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy UMLS:C1833607|SCTID:721015008|GARD:0002620|ICD10:Q87.8|OMIM:600559|MESH:C535855|Orphanet:2119 https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome owl:Class MONDO:0002254 biolink:NamedThing syndromic disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. mondoexuq1wtf syndromes|syndromic disease or disorder|syndrome associated with disease or disorder|syndrome|syndromic disease|cluster, symptom|symptom cluster|clusters, symptom|symptom clusters NCIT:C28193|OGMS:0000086|UMLS:C0039082|MESH:D013577|DOID:225 owl:Class MONDO:0011239 biolink:NamedThing colobomatous macrophthalmia-microcornea syndrome mondoexuq1wtf MACOM syndrome|macrophthalmia, colobomatous, with microcornea|MACOM OMIM:602499|Orphanet:468672|MESH:C566533|UMLS:C1865286 owl:Class MONDO:0020146 biolink:NamedThing major induction processes eye anomaly mondoexuq1wtf Orphanet:98554 owl:Class MONDO:0019077 biolink:NamedThing warty dyskeratoma A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. mondoexuq1wtf follicular dyskeratoma|isolated follicular keratosis Orphanet:69745|UMLS:C0334063|MedDRA:10068856|SCTID:254676008|NCIT:C4087 owl:Class MONDO:0002093 biolink:NamedThing acanthoma A benign skin neoplasm composed of epithelial cells. mondoexuq1wtf acanthoma|acanthoma (disease) acanthoma (disease) NCIT:C7419|UMLS:C0846967|MESH:D049309|GARD:0008604|HP:0025432|DOID:174 owl:Class MONDO:0021008 biolink:NamedThing secondary antiphospholipid syndrome An antiphospholipid syndrome that occurs alongside another autoimmune disorder. mondoexuq1wtf SCTID:239895006|ICD9:795.79|UMLS:C0409983 owl:Class MONDO:0007140 biolink:NamedThing antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. mondoexuq1wtf antiphospholipid syndrome, familial|familial antiphospholipid syndrome|antiphospholipid syndrome|antiphospholipid antibody syndrome|Hughes syndrome|lupus anticoagulant, familial NCIT:C61283|UMLS:C0085278|OMIM:107320|ICD10:D68.61|SCTID:26843008|ICD9:279.49|GARD:0005824|MESH:D016736|DOID:2988 owl:Class MONDO:0006480 biolink:NamedThing undifferentiated pleomorphic sarcoma, inflammatory variant An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. mondoexuq1wtf inflammatory MFH|undifferentiated pleomorphic sarcoma, inflammatory variant|inflammatory malignant fibrous histiocytoma|Xanthosarcoma|malignant xanthogranuloma UMLS:C1334180|NCIT:C6497|EFO:1000608|DOID:6192 owl:Class MONDO:0002142 biolink:NamedThing undifferentiated pleomorphic sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. mondoexuq1wtf Storiform-pleomorphic MFH|histiocytoma, fibrous, malignant|unclassified pleomorphic sarcoma|adult undifferentiated pleomorphic sarcoma|undifferentiated pleomorphic sarcoma|fibrous histiocytoma, malignant|malignant fibrous histiocytoma of soft tissue and bone|UPS|malignant fibrohistiocytic tumors|malignant fibrous histiocytoma|fibroxanthosarcoma|Unclassified Pleomorphic sarcoma (formerly "MFH")|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|malignant fibrous histiocytoma of the soft tissue and bone|malignant fibroxanthoma|undifferentiated pleomorphic soft tissue sarcoma|fibroxanthosarcoma (morphologic abnormality)|MFH|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma")|Storiform-pleomorphic fibrous histiocytoma|malignant fibrous cytoma|fibrous histiocytoma, malignant (morphologic abnormality)|adult malignant fibrous histiocytoma|Storiform-pleomorphic malignant fibrous histiocytoma|adult unclassified pleomorphic sarcoma MONDO:0016069 Orphanet:2023|MedDRA:10025552|DOID:1907|SCTID:443439001|EFO:1001972|NCIT:C114541|ICD9:171.9|ICDO:8830/3|HGNC:16982|GARD:0006963|ONCOTREE:MFH|NCIT:C4247|ICD10:C49.9|MESH:D051677 https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma owl:Class MONDO:0004905 biolink:NamedThing intestinal disaccharidase deficiency Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. mondoexuq1wtf intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption MONDO:0006062 ICD9:271.3|NCIT:C34731|EFO:1000060|DOID:9868|COHD:192286|SCTID:22169002 owl:Class MONDO:0020598 biolink:NamedThing malabsorption syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. mondoexuq1wtf malabsorption syndrome|malabsorption NCIT:C3214|SCTID:32230006|MESH:D008286|UMLS:C0024523 owl:Class MONDO:0008974 biolink:NamedThing Greenberg dysplasia A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. mondoexuq1wtf GRBGD|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|moth-eaten skeletal dysplasia|skeletal dysplasia, Greenberg type|autosomal recessive lethal chondrodystrophy with congenital hydrops|hem/Greenberg dysplasia|Greenberg dysplasia|hem|hydrops, ectopic calcification, moth-eaten skeletal dysplasia|hem dysplasia|chondrodystrophy, hydropic and prenatally lethal type|Greenberg skeletal dysplasia GARD:0008754|Orphanet:1426|ICD10:Q77.3|OMIM:215140|UMLS:CN199524|MESH:C535858|SCTID:389261002|UMLS:C2931048|DOID:0111588 https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia owl:Class MONDO:0019701 biolink:NamedThing chondrodysplasia punctata A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. mondoexuq1wtf chondrodysplasia calcificans congenita|chondrodysplasia punctata (stippled epiphyses) Group|chondrodysplasia punctata congenita|CDP UMLS:C0008445|ICD9:756.59|Orphanet:93442|DOID:2581|SCTID:360507004|ICD10:Q77.3|MESH:D002806|GARD:0008542|NCIT:C84632 owl:Class MONDO:0002871 biolink:NamedThing testicular trophoblastic tumor A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. mondoexuq1wtf testicular trophoblastic tumor UMLS:C1515301|DOID:4084|NCIT:C39934 owl:Class MONDO:0002872 biolink:NamedThing trophoblastic neoplasm A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. mondoexuq1wtf trophoblast tumor|trophoblastic neoplasm NOS (morphologic abnormality)|trophoblastic neoplasm (morphologic abnormality)|trophoblast neoplasm|trophoblast neoplasm (disease)|trophoblastic tumor|trophoblastic tumor (qualifier value)|neoplasm of trophoblast|trophoblastic neoplasm|tumor of trophoblast|trophoblastic neoplasms MESH:D014328|DOID:4085|UMLS:C0041182|NCIT:C3422 owl:Class MONDO:0009952 biolink:NamedThing radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). mondoexuq1wtf Der Kaloustian-McIntosh-Silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia|der Kaloustian mcintosh silver syndrome|radioulnar synostosis with developmental delay and hypotonia syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance Orphanet:3270|GARD:0001810|MESH:C564856|OMIM:266255|SCTID:721883006|ICD10:Q87.8|MESH:C538217 https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome owl:Class MONDO:0017985 biolink:NamedThing congenital radioulnar synostosis Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. mondoexuq1wtf radioulnar synostosis|radioulnar fusion|radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radial-ulnar synostosis|radio-ulnar synostosis|radio-ulnar synostosis type 1 COHD:438851|GARD:0010876|SCTID:33313004|OMIM:179300|Orphanet:3269|MESH:C562408|DOID:9827|GARD:0004630|ICD10:Q74.0|ICD9:755.53|HP:0002974 owl:Class MONDO:0100110 biolink:NamedThing adenovirus renal infection mondoexuq1wtf http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100338 biolink:NamedThing urinary tract infection mondoexuq1wtf urinary tract infection (disease) urinary tract infection (disease) owl:Class MONDO:0020635 biolink:NamedThing anaplastic meningioma A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields). mondoexuq1wtf malignant meningioma|anaplastic meningioma|anaplastic (malignant) meningioma|meningioma, malignant|meningioma, anaplastic, malignant ONCOTREE:ANM|ICDO:9530/3|NCIT:C4051 owl:Class MONDO:0020633 biolink:NamedThing anaplastic cancer mondoexuq1wtf anaplastic malignant neoplasm NCIT:C36025|UMLS:C1332287 owl:Class MONDO:0003318 biolink:NamedThing mixed cell type kidney Wilms' tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). mondoexuq1wtf Mixed cell type Wilms tumor|mixed cell type renal Wilms tumor|mixed cell type renal Wilms' tumor|mixed cell type nephroblastoma|mixed cell type renal adenosarcoma|mixed cell type kidney adenosarcoma|mixed cell type renal Wilm's tumor|mixed cell type kidney Wilms tumor DOID:5179|UMLS:C0279611|NCIT:C9149 owl:Class MONDO:0019004 biolink:NamedThing kidney Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. mondoexuq1wtf renal Wilms tumor|nephroblastoma, malignant|adult nephroblastoma|kidney Wilms tumor|renal embryonic tumor|childhood renal Wilms' cancer|embryonal nephroma|nonanaplastic renal Wilms tumor|Wilms tumor|renal Wilms' tumor|Wilms' tumor of the kidney|childhood renal Wilms tumor|Wilms tumor of the kidney|Wilms' tumor|Nonanaplastic renal Wilm's tumor|nephroblastoma DOID:5176|ICD10:C64|UMLS:C0027708|Orphanet:654|NCIT:C40407|ONCOTREE:WT|DOID:2154|SCTID:302849000|MedDRA:10029145|ICDO:8960/3|DC:0000457 owl:Class MONDO:0013875 biolink:NamedThing 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. mondoexuq1wtf 3-MGCA-4 (formerly)|SERAC1 3-methylglutaconic aciduria|MEGDEL|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|3-methylglutaconic aciduria caused by mutation in SERAC1|MEGDEL syndrome|3-MGCA type IV (formerly)|3-methylglutaconic aciduria type VI|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria type 6|SERAC1 defect|3-Methylglutaconic aciduria, type 6|MGCA6|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Present because it is in the OMIM series. DOID:0110001|Orphanet:352328|OMIM:614739|ICD10:E71.1|SCTID:711409002|UMLS:C3553597|GARD:0012963 owl:Class MONDO:0017359 biolink:NamedThing 3-methylglutaconic aciduria A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. mondoexuq1wtf MESH:C579867|DOID:0060336|Orphanet:289902|UMLS:C3696376|OMIMPS:250950|SCTID:237950009|ICD10:E71.1|NCIT:C98678|ICD10:E71.111 owl:Class MONDO:0014688 biolink:NamedThing short-rib thoracic dysplasia 14 with polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. mondoexuq1wtf SRTD14|short-rib thoracic dysplasia 14 with polydactyly OMIM:616546|UMLS:C4225286|ICD10:Q04.3|DOID:0110096 owl:Class MONDO:0018770 biolink:NamedThing Jeune syndrome Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. mondoexuq1wtf short-rib thoracic dysplasia|asphyxiating thoracic dystrophy of the newborn|thoracic pelvic phalangeal dystrophy|asphyxiating thoracic dystrophy|Jeune syndrome|Jeune asphyxiating thoracic dystrophy|Chondroectodermal dysplasia-like syndrome|Jeune's syndrome|infantile thoracic dystrophy|short-rib thoracic dysplasia with or without polydactyly|JATD|ATD SCTID:75049004|UMLS:C0265275|GARD:0003049|ICD10:Q77.2|NCIT:C84794|MESH:C537571|MedDRA:10057621|Orphanet:474|DOID:0050592|OMIMPS:208500 owl:Class MONDO:0009405 biolink:NamedThing cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. mondoexuq1wtf cervical hypertrichosis peripheral neuropathy|hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy OMIM:239840|Orphanet:2218|MESH:C565492|UMLS:C2931676|GARD:0001226|UMLS:C1855902 https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy owl:Class MONDO:0019280 biolink:NamedThing hypertrichosis Excessive hair growth anywhere on the body. mondoexuq1wtf hypertrichosis (disease)|hypertrichosis hypertrichosis (disease) HP:0000998|ICD10:L68.3|SCTID:29966009|DOID:420|MESH:D006983|ICD10:L68|MedDRA:10020864|UMLS:C0020555|ICD10:L68.9|Orphanet:79365 owl:Class MONDO:0015476 biolink:NamedThing cysts and fistulae of the face and oral cavity mondoexuq1wtf Orphanet:155835|ICD10:Q18.0 owl:Class MONDO:0019755 biolink:NamedThing developmental defect during embryogenesis A disease that has its basis in the disruption of embryonic morphogenesis. mondoexuq1wtf congenital malformation syndrome|embryonic morphogenesis disease|developmental defect during embryogenesis|rare developmental defect during embryogenesis|disorder of embryonic morphogenesis|malformation syndrome UMLS:CN206687|NCIT:C99267|Orphanet:93890|ICD9:759.7|UMLS:C1302790|SCTID:400038003 owl:Class MONDO:0010208 biolink:NamedThing wrinkly skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). mondoexuq1wtf wrinkled skin syndrome|WSS|wrinkly skin syndrome SCTID:238875009|OMIM:278250|Orphanet:2834|ICD9:259.8|GARD:0000273|ICD10:Q82.8|UMLS:C0406587|MESH:C536750 owl:Class MONDO:0018163 biolink:NamedThing autosomal recessive cutis laxa type 2A An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. mondoexuq1wtf ARCL2A|cutis laxa, debre type|cutis laxa with Joint laxity and retarded development|cutis laxa, autosomal recessive, type 2A|cutis laxa, autosomal recessive, type IIA|cutis laxa with bone dystrophy|autosomal recessive cutis laxa type IIA|cutis laxa with congenital disorder of glycosylation|cutis laxa with growth and developmental delay|cutis laxa, autosomal recessive type 2A GARD:0001638|DOID:0070134|OMIM:219200|Orphanet:357058|ICD10:Q82.8 owl:Class MONDO:0007800 biolink:NamedThing chromosome 18p deletion syndrome Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. mondoexuq1wtf 18p-|De Grouchy syndrome|deletion 18p syndrome|18p- syndrome|18P- syndrome|18P syndrome|chromosome 18p deletion|monosomy 18p|monosomy type 18p|chromosome 18p deletion syndrome DOID:0060406|MESH:C538309|Orphanet:1598|SCTID:270890001|UMLS:C0432442|GARD:0008631|NCIT:C84521|ICD10:Q93.5|ICD9:758.39|OMIM:146390 owl:Class MONDO:0009477 biolink:NamedThing Stromme syndrome Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). mondoexuq1wtf lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|jejunal atresia with microcephaly and ocular anomalies|jejunal atresia-microcephaly-ocular anomalies syndrome|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|CILD31|ciliary dyskinesia, primary, type 31|STROMS|primary ciliary dyskinesia 31|ciliary dyskinesia, primary, 31, formerly|Stromme syndrome|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31 DOID:0110595|Orphanet:444069|OMIM:616369|ICD10:Q87.8|EFO:0009160|OMIM:243605|Orphanet:506307|UMLS:CN237682|MESH:C565460 owl:Class MONDO:0019117 biolink:NamedThing genetic nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. mondoexuq1wtf rare genetic neurological disorder|genetic neurological disorder|genetic nervous system disorder Orphanet:71859|UMLS:CN205639 owl:Class MONDO:0018978 biolink:NamedThing IgG4-related mediastinitis mondoexuq1wtf mediastinal fibrosis|fibrosing mediastinitis|idiopathic mediastinal fibrosis|sclerosing mediastinitis MESH:C536136|ICD10:J98.5|Orphanet:63999|MedDRA:10027074|GARD:0008337 owl:Class MONDO:0005087 biolink:NamedThing respiratory system disease A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. mondoexuq1wtf respiratory system disease or disorder|respiratory disorder|disorder of respiratory system|respiratory system disease|respiratory system disorder|respiratory disease|disease or disorder of respiratory system|disease of respiratory system ICD9:508|ICD9:510-519.99|ICD9:516|ICD9:508.1|ICD9:V12.60|ICD10:J98|ICD9:519|ICD9:460-519.99|DOID:1579|ICD9:517|ICD9:516.8|ICD9:500-508.99|ICD9:516.9|ICD9:508.9|ICD9:503|ICD9:519.1|EFO:0000684|SCTID:50043002|ICD9:519.3|ICD10:J96-J99|ICD9:508.8|ICD9:V47.2|MESH:D012140|NCIT:C26871|ICD9:517.8|ICD9:519.8|ICD9:519.9 owl:Class MONDO:0022636 biolink:NamedThing candida glabrata infection mondoexuq1wtf Torulopsis glabrata (formerly)|candida glabrata GARD:0008171 https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata owl:Class MONDO:0002026 biolink:NamedThing candidiasis Infection with the organism Candida. mondoexuq1wtf thrush|infections, Candida |disseminated candidiasis|Candida infection|Candida infection|systemic candidiasis|Candidosis ICD9:112|MESH:D002177|ICD10:B37|ICD9:112.89|UMLS:C0006840|DOID:1508|ICD9:112.9|ICD10:B37.9|SCTID:78048006|NCIT:C26711|COHD:433968 owl:Class MONDO:0043330 biolink:NamedThing Mirizzi syndrome Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. mondoexuq1wtf Mirizzis syndrome|mirizzi's syndrome|syndrome, Mirizzi's|syndrome, Mirizzi|hepatic duct dystonia syndrome|Mirizzi syndrome|Mirizzi's syndrome UMLS:C0267878|SCTID:4283007|MESH:D057792|GARD:0010177|Orphanet:521219|EFO:1001860 owl:Class MONDO:0006757 biolink:NamedThing extrahepatic cholestasis Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. mondoexuq1wtf extrahepatic bile duct cholestasis|extrahepatic obstructive biliary disease|cholestasis of extrahepatic bile duct|extrahepatic biliary stasis|extrahepatic cholestasis (finding) SCTID:8262006|UMLS:C0005398|DOID:13619|MedDRA:10008637|MESH:D001651|EFO:1000933 owl:Class MONDO:0033667 biolink:NamedThing Delpire-McNeill syndrome mondoexuq1wtf DELMNES OMIM:619083 owl:Class MONDO:0003847 biolink:NamedThing Mendelian disease A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. mondoexuq1wtf hereditary diseases|genetic condition|genetic disease|inherited genetic disease|inherited disease|familial disorder|genetic disorder|hereditary disease|inborn disorder|molecular disease|hereditary disease or disorder Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. ICD9:799.89|MESH:D030342|EFO:0000508|DOID:630|NCIT:C3101|UMLS:C0019247|SCTID:32895009 owl:Class MONDO:0007399 biolink:NamedThing TWIST1-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. mondoexuq1wtf craniosynostosis type 1|craniosynostosis 1|CRS1|CRS|craniostenosis SCTID:57219006|OMIM:123100|UMLS:CN029978 https://github.com/monarch-initiative/mondo/issues/2659 owl:Class MONDO:0018114 biolink:NamedThing isolated brachycephaly Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. mondoexuq1wtf non-syndromic bicoronal synostosis Orphanet:35099|ICD10:Q75.0 owl:Class MONDO:0044649 biolink:NamedThing omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome mondoexuq1wtf Gershoni-Baruch syndrome Orphanet:496693 owl:Class MONDO:0017432 biolink:NamedThing syndrome with limb reduction defects mondoexuq1wtf UMLS:CN203180|Orphanet:294955 owl:Class MONDO:0001815 biolink:NamedThing extrapyramidal and movement disease mondoexuq1wtf ICD9:333.90|ICD10:G20-G26|DOID:13839|ICD10:G25.9|UMLS:C0477355 owl:Class MONDO:0005395 biolink:NamedThing movement disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. mondoexuq1wtf movement disorders|movement disease COHD:372604|DOID:480|MESH:D009069|SCTID:60342002|EFO:0004280|NCIT:C116757|ICD9:333.99|ICD9:333.90 owl:Class MONDO:0013481 biolink:NamedThing chromosome 13q14 deletion syndrome Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. mondoexuq1wtf Del(13)(q14)|chromosome 13Q deletion syndrome|del(13q14)|chromosome 13q14 deletion syndrome|deletion 13q14|monosomy type 13q14|monosomy 13q14 ICD10:Q93.5|MESH:C535484|NCIT:C36421|DOID:0060391|OMIM:613884|Orphanet:1587 owl:Class MONDO:0000761 biolink:NamedThing syndrome caused by partial chromosomal deletion mondoexuq1wtf chromosomal deletion syndrome Editor note: this is used in DOID to encompass typically partial deletions DOID:0060388 owl:Class MONDO:0008656 biolink:NamedThing benign paroxysmal positional nystagmus Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. mondoexuq1wtf vertigo, benign paroxysmal positional|vertigo, benign recurrent|BPPV|benign paroxysmal positional vertigo|familial benign recurrent vertigo|BRV|vertigo, benign recurrent, 1|familial vestibulopathy|vestibulopathy, familial SCTID:111541001|ICD9:386.11|COHD:81878|DOID:13941|UMLS:C0155502|GARD:0005915|OMIM:193007 owl:Class MONDO:0018751 biolink:NamedThing genetic otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. mondoexuq1wtf genetic otorhinolaryngologic disease UMLS:CN242186|Orphanet:466084 owl:Class MONDO:0033115 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 25 mondoexuq1wtf autosomal recessive spinocerebellar ataxia 25|SCAR25|spinocerebellar ataxia, autosomal recessive 25 DOID:0080259|OMIM:617584|UMLS:CN349871 owl:Class MONDO:0015244 biolink:NamedThing autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. mondoexuq1wtf arca|cerebellar ataxia, autosomal recessive UMLS:CN226644|Orphanet:1172|OMIMPS:213200|DOID:0050950 owl:Class MONDO:0000994 biolink:NamedThing malignant prostate phyllodes tumor An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. mondoexuq1wtf malignant prostate phyllodes tumor|malignant phyllodes tumor of prostate|malignant prostate phyllodes neoplasm|malignant phyllodes neoplasm of the prostate|malignant phyllodes neoplasm of prostate|malignant phyllodes tumor of the prostate|prostate malignant phyllodes tumor UMLS:C1334615|DOID:10289|NCIT:C5531 owl:Class MONDO:0021102 biolink:NamedThing prostate phyllodes tumor An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma. mondoexuq1wtf prostate phyllodes neoplasm|prostate cystosarcoma phyllodes|cystosarcoma phyllodes of the prostate|prostate gland phyllodes tumor|prostate phyllodes tumor|phyllodes neoplasm of the prostate|phyllodes tumor of the prostate|cystosarcoma phyllodes of prostate|phyllodes neoplasm of prostate|malignant phyllodes tumor of prostate (subtype)|phyllodes tumor of prostate NCIT:C7574|GARD:0009404|UMLS:C1335409|Orphanet:498228 owl:Class MONDO:0003427 biolink:NamedThing bronchus adenoma A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. mondoexuq1wtf papillary adenoma of type II pneumocytes|bronchial adenoma NOS (morphologic abnormality)|lung papillary adenoma|bronchial adenoma|type II pneumocyte adenoma|adenoma, bronchial, benign|adenoma of the bronchus|bronchus adenoma|peripheral papillary tumor of type II pneumocytes|adenoma of bronchus NCIT:C3494|UMLS:C0149845|DOID:5391|ICDO:8260/0 owl:Class MONDO:0002533 biolink:NamedThing papillary adenoma An adenoma characterized by the presence of papillary epithelial patterns. mondoexuq1wtf papillary adenoma NOS (morphologic abnormality)|papillary adenoma|glandular papilloma|adenoma, papillary, benign NCIT:C79951|UMLS:C0205650|DOID:3172 owl:Class MONDO:0014640 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 3 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. mondoexuq1wtf frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|FTDALS3|frontotemporal dementia and/or amyotrophic lateral sclerosis 3 UMLS:C4225326|OMIM:616437|DOID:0110068 owl:Class MONDO:0005144 biolink:NamedThing familial amyotrophic lateral sclerosis An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary amyotrophic lateral sclerosis OMIMPS:105400|EFO:0001356 owl:Class MONDO:0024623 biolink:NamedThing otorhinolaryngologic disease Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. mondoexuq1wtf diseases, otorhinolaryngological|ENT diseases|otolaryngological disease|ear, nose and throat disorder|otorhinolaryngological disease|disease, ENT|disease, otolaryngological|disease, otorhinolaryngologic|disease, otolaryngologic|otolaryngologic disorder|otorhinolaryngological diseases|diseases, otorhinolaryngologic|otolaryngologic diseases|diseases, otolaryngological|diseases, otolaryngologic|ear, nose or throat disorder|ear/nose/throat disease|ENT disease|otolaryngologic disease|otolaryngological diseases|otorhinolaryngologic disease|diseases, ENT|disease, otorhinolaryngological Editor note: consider uberon class UMLS:C0395797|SCTID:232208008|MESH:D010038|NCIT:C118420|UMLS:C0029896|ICD9:478.19 owl:Class MONDO:0021059 biolink:NamedThing head or neck disease/disorder Any disease or disorder affecting the head and/or neck region. mondoexuq1wtf head or neck disorder|craniocervical region disease|disorder of craniocervical region|disease of craniocervical region|disease or disorder of craniocervical region|head and neck disorder|craniocervical region disease or disorder UMLS:C1333941|NCIT:C27571 owl:Class MONDO:0007401 biolink:NamedThing craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. mondoexuq1wtf Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|Braddock Jones Superneau syndrome|Braddock-Jones-Superneau syndrome|hydrocephalus, autosomal dominant|sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|HDCPH1|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome OMIM:123155|GARD:0000998|Orphanet:1538|ICD10:Q03.1|ICD10:Q75.0|GARD:0001592|UMLS:CN199608|MESH:C563973|SCTID:720813007 https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus owl:Class MONDO:0017121 biolink:NamedThing syndrome with a Dandy-Walker malformation as major feature mondoexuq1wtf UMLS:CN202471|Orphanet:269546 owl:Class MONDO:0008471 biolink:NamedThing spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. mondoexuq1wtf SEDC|late spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia congenita|SED congenita|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|congenital spondyloepiphyseal dysplasia|Spranger-Wiedemann disease|spondyloepiphyseal dysplasia, congenital type ICD10:Q77.7|DOID:14789|Orphanet:94068|ICD9:756.9|GARD:0004987|MedDRA:10062920|MESH:C535788|OMIM:183900|SCTID:278713008 https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita owl:Class MONDO:0019686 biolink:NamedThing type 2 collagen-related bone disorder mondoexuq1wtf Orphanet:93421|UMLS:CN227672 https://github.com/monarch-initiative/mondo/issues/3574 owl:Class MONDO:0008179 biolink:NamedThing paroxysmal extreme pain disorder Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. mondoexuq1wtf rectal pain, familial|submandibular, ocular, and rectal pain with flushing|pain, submandibular, ocular, and rectal, with flushing|familial rectal pain|familial rectal syndrome|paroxysmal extreme pain disorder|PEPD|Pexpd NCIT:C125385|OMIM:167400|ICD9:349.89|DOID:0111537|MESH:C563475|UMLS:C1833661|Orphanet:46348|SCTID:699190008|GARD:0012854 https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder owl:Class MONDO:0007765 biolink:NamedThing hyperostosis cranialis interna mondoexuq1wtf hyperostosis cranialis interna (disease)|hyperostosis cranialis interna|HCIN hyperostosis cranialis interna (disease) OMIM:144755|Orphanet:443098|ICD10:M85.2|MESH:C564168|HP:0005890 owl:Class MONDO:0023603 biolink:NamedThing hereditary connective tissue disorder An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. mondoexuq1wtf inherited disorder of connective tissue|Connective tissue hereditary disorder|hereditary connective tissue disorder|connective tissue hereditary disorder|Hereditary Connective Tissue Disorder|Inherited disorder of connective tissue NCIT:C97075|SCTID:363045008|UMLS:C0410787 owl:Class MONDO:0008127 biolink:NamedThing ophthalmomandibulomelic dysplasia Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. mondoexuq1wtf ophthalmomandibulomelic dysplasia|Pillay syndrome|OMM syndrome|Omm syndrome|Ophthalmo-mandibulo-melic dysplasia ICD10:Q87.8|OMIM:164900|GARD:0004365|Orphanet:2741|UMLS:C1833872|SCTID:715484003|MESH:C563501 owl:Class MONDO:0015218 biolink:NamedThing syndromic developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. mondoexuq1wtf syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye UMLS:CN226635|Orphanet:108987 owl:Class MONDO:0020339 biolink:NamedThing X-linked complex spastic paraplegia mondoexuq1wtf complicated X-linked SPG|Complex X-linked HSP|Complex X-linked SPG|complicated X-linked HSP|X-linked complicated spastic paraplegia Orphanet:98888|ICD10:G11.4 owl:Class MONDO:0015150 biolink:NamedThing complex hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. mondoexuq1wtf syndromic hereditary spastic paraplegia|complicated SPG|Complex HSP|complicated HSP|complicated hereditary spastic paraplegia|Complex familial spastic paraplegia|syndrome associated with hereditary spastic paraplegia|Complex SPG|complicated familial spastic paraplegia ICD10:G11.4|UMLS:CN197491|UMLS:C0393556|Orphanet:102013|SCTID:230261006 owl:Class MONDO:0014511 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2S Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene. mondoexuq1wtf Charcot-Marie-Tooth neuropathy type 2S|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|CMT2S|IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2S|Charcot-Marie-Tooth neuropathy, type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|autosomal recessive axonal Charcot-Marie-Tooth type 2S|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2 ICD10:G60.0|UMLS:C4015349|DOID:0110171|OMIM:616155|Orphanet:443073 owl:Class MONDO:0018993 biolink:NamedThing Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. mondoexuq1wtf hereditary motor and sensory neuropathy type 2|CMT2|autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|hereditary motor and sensory neuropathy Guadalajara neuronal type|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy Okinawa type SCTID:715665006|DOID:0050539|ICD9:356.0|GARD:0012431|Orphanet:64746|ICD10:G60.0 owl:Class MONDO:0011661 biolink:NamedThing inflammatory bowel disease 5 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31. mondoexuq1wtf IBD5|inflammatory bowel disease type 5|inflammatory bowel disease 5 OMIM:606348|UMLS:C1853438|MESH:C565234|DOID:0110889 owl:Class MONDO:0005265 biolink:NamedThing inflammatory bowel disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. mondoexuq1wtf inflammatory bowel disease|autoimmune bowel disorder|IBD UMLS:C0021390|ICD9:558.9|KEGG:05321|NCIT:C3138|MESH:D015212|EFO:0003767|DOID:0050589|OMIMPS:266600|SCTID:24526004 owl:Class MONDO:0004394 biolink:NamedThing maxillary sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. mondoexuq1wtf squamous cell carcinoma of the maxillary sinus|maxillofacial sinus squamous cell carcinoma|epidermoid carcinoma of maxillary antrum|squamous cell carcinoma of maxillofacial sinus|maxillary sinus squamous cell carcinoma|squamous cell carcinoma of the maxillary antrum|squamous cell carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|epidermoid carcinoma of the maxillary antrum|maxillary antrum squamous cell carcinoma|epidermoid carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillofacial sinus|epidermoid carcinoma of the maxillary sinus|maxillofacial sinus epidermoid carcinoma|epidermoid carcinoma of maxillary sinus|epidermoid carcinoma of the maxillofacial sinus|maxillary sinus epidermoid carcinoma|maxillary antrum epidermoid carcinoma SCTID:707354003|UMLS:C1334647|DOID:7910|NCIT:C6064 owl:Class MONDO:0044705 biolink:NamedThing paranasal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. mondoexuq1wtf squamous cell carcinoma of the nasal cavity and paranasal sinuses|paranasal sinus squamous cell carcinoma|squamous cell carcinoma of paranasal sinus|squamous cell carcinoma of the paranasal sinus|squamous cell carcinoma of the nasal cavity and sinuses|epidermoid carcinoma of paranasal sinus|epidermoid carcinoma of the paranasal sinus|paranasal sinus epidermoid carcinoma NCIT:C8193|UMLS:C0280334|Orphanet:500464 owl:Class MONDO:0020866 biolink:NamedThing nasopharyngeal diphtheria Infection of the nasopharynx by Corynebacterium diphtheriae. mondoexuq1wtf Nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|nasopharyngeal diphtheria NCIT:C34547|SCTID:75589004|ICD9:032.1|UMLS:C0012558 owl:Class MONDO:0005504 biolink:NamedThing diphtheria A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. mondoexuq1wtf Corynebacterium infection COHD:434568|ICD10:A36.1|UMLS:C0012546|GARD:0001875|ICD10:A36.2|SCTID:397428000|ICD10:A36.3|EFO:0005549|DOID:11405|ICD10:A36.0|ICD9:032|ICD9:032.9|Orphanet:1679|MESH:D004165|ICD10:A36|ICD10:A36.8|ICD10:A36.9|NCIT:C34541|MedDRA:10013023 https://rarediseases.info.nih.gov/diseases/1875/diphtheria owl:Class MONDO:0008423 biolink:NamedThing sinus node disease and myopia mondoexuq1wtf sick sinus syndrome and myopia|sinus node disease and myopia|Sss-myopia syndrome GARD:0004880|MESH:C566690|UMLS:C1866960|OMIM:182190 https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia owl:Class MONDO:0012061 biolink:NamedThing familial sick sinus syndrome Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. mondoexuq1wtf familial sinus node dysfunction|hereditary sick sinus syndrome|sick sinus syndrome 1, autosomal recessive|SSS1 SCTID:233913007|OMIMPS:608567|Orphanet:166282|ICD10:I49.5|MESH:C563907|MedDRA:10040639 owl:Class MONDO:0011254 biolink:NamedThing brachydactyly, intraventricular septal defect, and deafness mondoexuq1wtf brachydactyly, intraventricular septal defect, and deafness MESH:C566521|OMIM:602561|UMLS:C1865182 owl:Class MONDO:0005601 biolink:NamedThing ovarian mucinous adenocarcinoma An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. mondoexuq1wtf mucinous carcinoma of the ovary|mucinous adenocarcinoma of the ovary|ovary mucinous adenocarcinoma|mucinous adenocarcinoma of ovary|ovarian mucinous adenocarcinoma|ovarian mucinous carcinoma|mucinous carcinoma of ovary DOID:3606|EFO:0006462|UMLS:C1335167|UMLS:CN205033|ICD10:C56|NCIT:C5243|Orphanet:398961 owl:Class MONDO:0004957 biolink:NamedThing mucinous adenocarcinoma An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. mondoexuq1wtf mucinuos carcinoma|mucin-producing adenocarcinoma|gelatinous adenocarcinoma|mucoid carcinoma|mucin-secreting carcinoma|mucous carcinoma|gelatinous carcinoma|mucinous adenocarcinoma|mucoid adenocarcinoma|adenocarcinoma, mucinous, malignant|colloid carcinoma|mucinous carcinoma|CEMU|mucous adenocarcinoma|mucin-secreting adenocarcinoma|pseudomyxoma peritonei with unknown primary site|colloid adenocarcinoma|mucin-producing adenocarcinoma (morphologic abnormality) NCIT:C26712|ONCOTREE:CEMU|UMLS:C0007130|DOID:3030|EFO:0000197|ICDO:8480/3|UMLS:C0334368|MESH:D002288 owl:Class MONDO:0016191 biolink:NamedThing qualitative or quantitative defects of titin mondoexuq1wtf Orphanet:209053 owl:Class MONDO:0016139 biolink:NamedThing qualitative or quantitative protein defects in neuromuscular diseases mondoexuq1wtf UMLS:CN200901|Orphanet:207049 owl:Class MONDO:0033043 biolink:NamedThing spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy mondoexuq1wtf spastic ataxia 8|SPAX8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy DOID:0080252|UMLS:C4479653|Orphanet:527497|OMIM:617560 owl:Class MONDO:0019046 biolink:NamedThing leukodystrophy Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. mondoexuq1wtf leukodystrophy, hypomyelinating|HLD|hypomyelinating leukodystrophy|hypomyelinating leukoencephalopathy Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' COHD:374912|ICD10:E75.2|NCIT:C61253|DOID:0050987|ICD9:330.0|SCTID:192781003|Orphanet:68356|DOID:0060786|MedDRA:10024381|UMLS:C0023520|DOID:10579|OMIMPS:312080|UMLS:CN228461|GARD:0006895 https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy owl:Class MONDO:0016649 biolink:NamedThing Warburg micro syndrome Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. mondoexuq1wtf micro syndrome|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|WARBM|Warburg-Sjo-Fledelius syndrome|Warburg micro syndrome|microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism DOID:0060237|UMLS:CN158709|OMIMPS:600118|ICD10:Q87.0|Orphanet:2510|GARD:0005534 owl:Class MONDO:0015159 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-intellectual disability mondoexuq1wtf multiple congenital anomalies-intellectual disability with or without dysmorphism|MCA/MR UMLS:CN228396|Orphanet:102283 owl:Class MONDO:0011946 biolink:NamedThing diaphanospondylodysostosis Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. mondoexuq1wtf diaphanospondylodysostosis|vertebral ossification, defect in, with nephrogenic rests OMIM:608022|ICD10:Q78.8|UMLS:C1842691|Orphanet:66637|SCTID:721094006|MESH:C564305 owl:Class MONDO:0018454 biolink:NamedThing dysostosis of genetic origin An instance of dysostosis that is caused by a modification of the individual's genome. mondoexuq1wtf genetic dysostosis Orphanet:404568 owl:Class MONDO:0008903 biolink:NamedThing lung cancer A malignant neoplasm involving the lung. mondoexuq1wtf malignant lung tumor|alveolar cell carcinoma|Nonsmall cell lung cancer|malignant neoplasm of the lung|malignant lung neoplasm|malignant neoplasm of lung|lung neoplasm|cancer of lung|lung cancer, protection against|lung cancer|malignant tumor of the lung|malignant tumor of lung DOID:1324|ICD10:C34.3|NCIT:C7377|ICD10:C34.2|ICD9:162.8|ICD9:162.4|ICD10:C34.1|ICD9:162.3|OMIM:211980|ICD9:162.5|ICD9:162.9|SCTID:363358000 owl:Class MONDO:0003274 biolink:NamedThing thoracic cancer A primary or metastatic malignant neoplasm affecting the tissues of the thorax. mondoexuq1wtf malignant neoplasm of the thorax|thorax neoplasm|cancer of thoracic segment of trunk|malignant thoracic neoplasm|thoracic tumor|malignant neoplasm of thorax|malignant neoplasm of thoracic segment of trunk|malignant tumor of thorax|tumor of thorax|thorax cancer|malignant tumor of the thorax|malignant thoracic tumor|thoracic segment of trunk cancer|malignant thoracic segment of trunk neoplasm UMLS:C0153661|NCIT:C3576|ICD9:195.1|SCTID:188361007|ICD10:C76.1|DOID:5093 owl:Class MONDO:0008097 biolink:NamedThing linear nevus sebaceus syndrome Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). mondoexuq1wtf Nevus sebaceus of Jadassohn|JNP|organoid nevus syndrome|sebaceous nevus syndrome linear|Solomon syndrome|Schimmelpenning syndrome|sebaceous Nevus syndrome, linear|organoid Nevus|Sfm syndrome|linear nevus sebaceous syndrome|Epidermal Nevus syndrome, formerly|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|Nevus sebaceous of Jadassohn|linear sebaceous Nevus syndrome|epidermal nevus syndrome|SFM|organoid nevus phakomatosis|organoid Nevus phakomatosis|Jadassohn nevus phakomatosis|SFM syndrome|Jadassohn Nevus phakomatosis|linear sebaceous Nevus|Schimmelpenning Feuerstein Mims syndrome|Nevus sebaceus syndrome OMIM:163200|Orphanet:2612|DOID:0111530|ICD10:Q85.8|GARD:0010291|NCIT:C4678 https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome owl:Class MONDO:0020063 biolink:NamedThing malformation syndrome with hamartosis mondoexuq1wtf Dysmorphologic diseases with phakomatosis UMLS:CN206967|Orphanet:98196 owl:Class MONDO:0003328 biolink:NamedThing fallopian tube adenomatoid tumor A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding. mondoexuq1wtf fallopian tube adenomatoid tumor DOID:5196|UMLS:C1517110|NCIT:C40129 owl:Class MONDO:0002373 biolink:NamedThing benign mesothelioma A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body. mondoexuq1wtf benign tumor of mesothelial tissue|benign tumor of mesothelium|mesothelioma, benign ICD10:C45.9|ICD9:215.9|UMLS:C0348424|SCTID:254825007|DOID:2645|ICD10:C45 owl:Class MONDO:0004858 biolink:NamedThing occlusion of gallbladder Blockage of the normal flow of the contents of the gallbladder. mondoexuq1wtf obstruction of gallbladder ICD10:K82.0|DOID:9714|UMLS:C0156214|SCTID:197416005|COHD:192363|ICD9:575.2 owl:Class MONDO:0005281 biolink:NamedThing gallbladder disease A disease involving the gall bladder. mondoexuq1wtf disease of gall bladder|disease or disorder of gall bladder|disorder of gall bladder|gall bladder disease or disorder|gall bladder disease|gallbladder disorder|Gall bladder disorder DOID:0060262|EFO:0003832|ICD9:575.8|SCTID:39621005|MESH:D005705|NCIT:C34631|ICD10:K82|ICD9:575.9|ICD10:K82.9|UMLS:C0016977|OMIMPS:600803 owl:Class MONDO:0013400 biolink:NamedThing Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. mondoexuq1wtf p450scc deficiency|XY sex reversal-adrenal failure|cholesterol side-chain Cleavage deficiency|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|XY sex reversal-adrenal failure syndrome|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome Orphanet:168558|NCIT:C131422|ICD10:Q56.1|DOID:0050546|MESH:C566130|UMLS:C3151055|OMIM:613743 owl:Class MONDO:0002525 biolink:NamedThing inherited lipid metabolism disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. mondoexuq1wtf disorder of lipid metabolism|fatty acid metabolism disorder|dyslipidemia|lipid metabolism disorder DOID:3146|Orphanet:309005|ICD9:272.9|ICD9:272.8|MedDRA:10061227|UMLS:C0154251|SCTID:267431006|NCIT:C97092 owl:Class MONDO:0013298 biolink:NamedThing chromosome 17q21.31 duplication syndrome The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. mondoexuq1wtf trisomy 17q21.31|dup(17)(q21.31)|chromosome 17q21.31 duplication syndrome|17q21.31 microduplication syndrome ICD10:Q92.3|OMIM:613533|UMLS:C3150787|DOID:0060434|UMLS:C4274345|SCTID:716683005|Orphanet:217340 owl:Class MONDO:0015474 biolink:NamedThing cryptosporidiosis Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. mondoexuq1wtf Cryptosporidium caused disease or disorder|Cryptosporidial gastroenteritis|Cryptosporidium infectious disease|intestinal cryptosporidiosis|Cryptosporidioses|infection by Cryptosporidium|Cryptosporidium disease or disorder|Cryptosporidium infection DOID:1733|MESH:D003457|NCIT:C128408|GARD:0006219|MedDRA:10011502|UMLS:C0520796|SCTID:66160001|UMLS:C0010418|ICD9:007.4|ICD10:A07.2|COHD:194265|Orphanet:1549 https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis owl:Class MONDO:0005707 biolink:NamedThing coccidiosis A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. mondoexuq1wtf coccidiosis (& [intestinal])|intestinal coccidiosis DOID:2113|NCIT:C34493|MESH:D003048|SCTID:62005008|COHD:433401|UMLS:C0009187|EFO:0007212|ICD9:007.2 owl:Class MONDO:0005722 biolink:NamedThing croup Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. mondoexuq1wtf acute laryngotracheitis|croup syndrome|acute laryngotracheobronchitis|acute obstructive laryngitis COHD:260134|DOID:9395|ICD9:464.4|EFO:0007227|UMLS:C0010380|NCIT:C26735|ICD10:J05.0|MESH:D003440|SCTID:71186008 owl:Class MONDO:0000263 biolink:NamedThing laryngotracheitis An inflammation of both larynx and trachea. mondoexuq1wtf ICD9:464|SCTID:55130001|ICD10:J37.1|ICD9:464.2|ICD9:476.1|UMLS:C0023076|ICD10:J04|ICD10:J04.2|DOID:0050148 owl:Class MONDO:0001382 biolink:NamedThing hepatorenal syndrome Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. mondoexuq1wtf hepato-renal syndrome GARD:0006610|SCTID:51292008|ICD10:K76.7|MESH:D006530|COHD:196455|ICD9:572.4|DOID:11823|NCIT:C113400|UMLS:C0019212 https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome owl:Class MONDO:0005154 biolink:NamedThing liver disease A disease involving the liver. mondoexuq1wtf disease of liver|liver and intrahepatic bile duct disorder|liver disorder|disorder of liver|liver disease|hepatic disease|liver disease or disorder|hepatic disorder|disease or disorder of liver NCIT:C3196|UMLS:C0023895|COHD:194984|EFO:0001421|MESH:D008107|ICD10:K76.9|ICD9:573.9|DOID:409|ICD9:573.8|ICD10:K70-K77|SCTID:235856003 owl:Class MONDO:0008923 biolink:NamedThing autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. mondoexuq1wtf cataract, alopecia, sclerodactyly syndrome|palmoplantar keratoderma and congenital alopecia 2|PPKCA2|Ppkca, Wallis type|cataract-alopecia-sclerodactyly syndrome|cataract, alopecia, sclerodactyly|palmoplantar keratoderma and congenital alopecia type 2|PPK-CA, Wallis type|autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|palmoplantar keratoderma and congenital alopecia, Wallis type|cass MESH:C535336|GARD:0001139|ICD10:Q82.8|OMIM:212360|UMLS:C1859316|ICD10:Q84.0|DOID:0111245|Orphanet:1366 https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia owl:Class MONDO:0017666 biolink:NamedThing diffuse palmoplantar keratoderma mondoexuq1wtf diffuse palmoplantar hyperkeratosis|diffuse PPK|diffuse keratosis palmoplantaris Orphanet:307141|ICD9:757.39|UMLS:C0022584|ICD10:Q82.8|SCTID:400123002|HP:0007435 owl:Class MONDO:0004763 biolink:NamedThing carotid artery dissection Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. mondoexuq1wtf dissection of carotid artery SCTID:720626009|DOID:9348|ICD9:443.21|NCIT:C125662|ICD10:I77.71|UMLS:C0338585 owl:Class MONDO:0005269 biolink:NamedThing carotid artery disease A disease involving the carotid artery segment. mondoexuq1wtf carotid artery segment disease or disorder|carotid artery disorder|disorder of carotid artery segment|disorder of carotid artery|disease of carotid artery segment|disease or disorder of carotid artery segment|carotid artery segment disease NCIT:C84476|EFO:0003781|DOID:3407|ICD9:447.9|SCTID:371160000|UMLS:C0007273|MESH:D002340 owl:Class MONDO:0009026 biolink:NamedThing Costello syndrome Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. mondoexuq1wtf FCS syndrome|Costello syndrome|CSTLO|faciocutaneoskeletal syndrome|myopathy, congenital, with excess of muscle spindles DOID:0050469|NCIT:C84652|GARD:0001550|SCTID:309776008|OMIM:218040|UMLS:C0587248|ICD9:799.89|ICD10:Q87.8|MedDRA:10067380|MESH:D056685|Orphanet:3071 https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome owl:Class MONDO:0007345 biolink:NamedThing aorta coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. mondoexuq1wtf coarctation of the aorta|coarctation of aorta|aortic coarctation MedDRA:10009807|ICD10:Q25.1|COHD:321119|EFO:1001267|MESH:D001017|NCIT:C84567|ICD9:747.10|OMIM:120000|UMLS:C0003492|Orphanet:1457|SCTID:7305005|GARD:0005828 owl:Class MONDO:0016229 biolink:NamedThing genetic vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. mondoexuq1wtf genetic vascular anomaly Orphanet:211240 owl:Class MONDO:0005271 biolink:NamedThing allergic disease An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. mondoexuq1wtf hypersensitivity reaction type I disease|allergic form of immune system disease|allergy|allergic form of disease or disorder|allergic reaction|allergic response|allergic disease or disorder|disorder of type I hypersensitivity|allergic hypersensitivity disease|hypersensitivity|type I hypersensitivity disease ICD10:T78.40|SCTID:609328004|UMLS:C1527304|MESH:D006967|DOID:1205|EFO:0003785|ICD9:995.3|ICD9:V15.09|NCIT:C114476 owl:Class MONDO:0000605 biolink:NamedThing hypersensitivity reaction disease An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. mondoexuq1wtf hypersensitivity reaction|hypersensitivity|hypersensitive|sensitive|allergic reaction|sensitivity EFO:1002003|NCIT:C3114|SCTID:473010000|DOID:0060056 owl:Class MONDO:0006277 biolink:NamedThing lung lymphangioleiomyomatosis Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. mondoexuq1wtf lymphangioleiomyomatosis|pulmonary lymphangiomyomatosis|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lung lymphangiomyomatosis GARD:0003319|MESH:D018192|ICD10:D48.7|Orphanet:538|OMIM:606690|MedDRA:10049459|ICD9:518.89|SCTID:277844007|EFO:1000334|NCIT:C38153|COHD:4174275|DOID:3319|ONCOTREE:LAM owl:Class MONDO:0020588 biolink:NamedThing lung PEComa A lung tumor that arises from perivascular epithelioid cells (PECs). mondoexuq1wtf lung PEComa|lung pecomatous tumor NCIT:C142783 owl:Class MONDO:0019609 biolink:NamedThing Zellweger spectrum disorders Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. mondoexuq1wtf Zellweger syndrome|cerebrohepatorenal syndrome|congenital iron overload|Zellweger leukodystrophy|ZWS|ZS|Zellweger spectrum disorders Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 GARD:0007917|ICD10:Q87.8|DOID:905|MESH:D015211|SCTID:88469006|Orphanet:912|NCIT:C85239|UMLS:C0043459|ICD10:E71.510 https://github.com/monarch-initiative/mondo/issues/2632|https://github.com/monarch-initiative/mondo/pull/2571/ owl:Class MONDO:0020227 biolink:NamedThing systemic disease with cataract mondoexuq1wtf Orphanet:98643|UMLS:C0339369 owl:Class MONDO:0009695 biolink:NamedThing myeloproliferative disease, autosomal recessive mondoexuq1wtf myeloproliferative disease, autosomal recessive OMIM:254700|UMLS:C1850779|MESH:C564977 owl:Class MONDO:0020076 biolink:NamedThing myeloproliferative neoplasm A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) mondoexuq1wtf myeloproliferative neoplasm, chronic|CMPD|myeloproliferative neoplasm|chronic myeloproliferative disorders|MPD|chronic myeloproliferative disease|CMPD, U|chronic myeloproliferative neoplasm|myeloproliferative tumor|MPN|myeloproliferative disorder|myeloproliferative neoplasms|chronic myeloproliferative disorder DOID:2226|UMLS:C1292778|NCIT:C4345|ICD9:238.79|ICD10:D47.1|ONCOTREE:MPN|SCTID:425333006|Orphanet:98274|MedDRA:10028576|GARD:0009319|EFO:0004251|ICDO:9960/3|EFO:0002428|ICDO:9975/1 owl:Class MONDO:0015012 biolink:NamedThing mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders mondoexuq1wtf mucopolysaccharidosis-plus syndrome|MPSPS|mucopolysaccharidosis-like plus disease UMLS:C4310627|Orphanet:505248|OMIM:617303 owl:Class MONDO:0009222 biolink:NamedThing Gollop-Wolfgang complex Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur. mondoexuq1wtf bifid femur-monodactylous ectrodactyly syndrome|Gollop-Wolfgang complex|femur, unilateral bifid, with monodactylous ectrodactyly|femur bifid with monodactylous ectrodactyly|GWC MESH:C537917|UMLS:C1856789|Orphanet:1986|OMIM:228250|GARD:0002285|SCTID:716006003|ICD10:Q74.8 owl:Class MONDO:0017434 biolink:NamedThing syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy mondoexuq1wtf Orphanet:294959|UMLS:CN203181 owl:Class MONDO:0018760 biolink:NamedThing WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome mondoexuq1wtf Orphanet:466943|UMLS:CN242159 owl:Class MONDO:0017184 biolink:NamedThing autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). mondoexuq1wtf autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency UMLS:CN202625|SCTID:717046003|ICD10:E16.1|Orphanet:276575|UMLS:C4274080 owl:Class MONDO:0005803 biolink:NamedThing hyperinsulinemic hypoglycemia An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. mondoexuq1wtf hyperinsulinemic hypoglycemia|nesidioblastosis|persistent hyperinsulinemia hypoglycemia of infancy|islet cell hyperplasia|hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) ICD10:E16.9|HP:0000825|DOID:13317|EFO:0007318|SCTID:42681006 owl:Class MONDO:0011739 biolink:NamedThing pancreatic cancer, susceptibility to, 1 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. mondoexuq1wtf pancreatic cancer, susceptibility to, type 1|susceptibility to pancreatic cancer 1|Pnca1|pancreatic cancer, susceptibility to, 1|familial pancreatic carcinoma caused by mutation in PALLD|PALLD familial pancreatic carcinoma OMIM:606856 owl:Class MONDO:0020573 biolink:NamedThing inherited disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. mondoexuq1wtf genetic susceptibilities|genetic predisposition|predispositions, genetic|predisposition, genetic|genetic predispositions|genetic susceptibility|susceptibilities, genetic|susceptibility, genetic|hereditary predisposition to disease|hereditary disease susceptibility cjm 2017-09-30T12:01:25Z MESH:D020022 owl:Class MONDO:0004795 biolink:NamedThing otitis externa Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. mondoexuq1wtf otitis externa|external Ear infection|swimmer's Ear|outer Ear infection|swimmer's ear|infectious otitis externa DOID:9463|COHD:380731|NCIT:C3299|ICD9:380.1|ICD9:380.10|MESH:D010032|SCTID:3135009|ICD10:H60 owl:Class MONDO:0021666 biolink:NamedThing ear infection A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. mondoexuq1wtf Ear infection|otitis NCIT:C27193|MESH:D010031|UMLS:C0699744 owl:Class MONDO:0007925 biolink:NamedThing chromosome 5q deletion syndrome A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) mondoexuq1wtf 5q- syndrome|megakaryocytes, unilobular nucleated|5Q- syndrome|myelodysplastic syndrome with 5q deletion|5q deletion syndrome|refractory macrocytic anemia due to 5q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|5q syndrome|myelodysplastic syndrome with isolated del(5q)|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|MAR|5Q minus syndrome|macrocytic Anemia, refractory, due to 5Q deletion|chromosome 5q deletion syndrome DOID:0090016|GARD:0008723|UMLS:CN206233|Orphanet:86841|MESH:C535323|SCTID:277597005|OMIM:153550|ICDO:9986/3|NCIT:C6867|ICD10:D46.7|COHD:136950 owl:Class MONDO:0018881 biolink:NamedThing myelodysplastic syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) mondoexuq1wtf myelodysplastic syndrome, susceptibility to|myelodysplasia|myelodysplastic syndrome/neoplasm|dysmyelopoietic syndrome|smoldering leukemia|oligoblastic leukemia|hematopoeitic - myelodysplastic syndrome (MDS)|preleukemia|MDS|myelodysplastic neoplasm|myelodysplastic syndromes|myelodysplastic syndrome DOID:0050908|Orphanet:52688|GARD:0007132|SCTID:109995007|EFO:0000198|UMLS:C3463824|NCIT:C3247|OMIM:614286|ICD9:238.75|ONCOTREE:MDS|MedDRA:10028532|ICD9:238.7|UMLS:C0033027|COHD:138994|ICDO:9989/3 owl:Class MONDO:0011000 biolink:NamedThing guanylate cyclase 2E mondoexuq1wtf Gucy2D, mouse, homolog of|GC-E|GUCY2E|GUCY2EP|guanylyl cyclase, Membrane, type E|guanylate cyclase 2E, pseudogene|guanylate cyclase type 2E|guanylate cyclase 2E OMIM:601138 owl:Class MONDO:0016459 biolink:NamedThing 2q23.1 microdeletion syndrome The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. mondoexuq1wtf Del(2)(q23.1)|pseudo-Angelman syndrome|chromosome 2q23.1 microdeletion syndrome|monosomy 2q23.1 Editor note: TODO check ORDO xref to OMIM Orphanet:228402|ICD10:Q93.5|GARD:0010998|SCTID:719657001 https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome owl:Class MONDO:0008237 biolink:NamedThing phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. mondoexuq1wtf Stoll-Lévy-Francfort syndrome|phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|facioauriculoradial dysplasia|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-levy-Francfort syndrome MESH:C537498|OMIM:171480|GARD:0004323|UMLS:C1868390|Orphanet:2878|ICD10:Q87.2 owl:Class MONDO:0044689 biolink:NamedThing recurrent idiopathic neuroretinitis mondoexuq1wtf RINR Orphanet:499103 owl:Class MONDO:0700007 biolink:NamedThing idiopathic disease A disease or disorder for which the cause is of uncertain or unknown. mondoexuq1wtf idiopathic disorder http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3169 owl:Class MONDO:0017749 biolink:NamedThing disorder of multiple glycosylation mondoexuq1wtf Orphanet:309526|UMLS:CN227195|ICD10:E77.8 owl:Class MONDO:0015286 biolink:NamedThing congenital disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. mondoexuq1wtf carbohydrate deficient glycoprotein syndrome|congenital disorders of glycosylation|carbohydrate-deficient glycoprotein syndromes|carbohydrate-deficient glycoprotein syndrome|CDG NCIT:C84615|SCTID:238049009|UMLS:C0282577|ICD9:271.8|ICD10:E77.8|MESH:D018981|OMIMPS:212065|GARD:0010307|Orphanet:137|DOID:5212 owl:Class MONDO:0006456 biolink:NamedThing thymoma A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. mondoexuq1wtf primary thymic epithelial neoplasm|THYM|primary thymic epithelial tumor|thymoma (disease)|thymoma thymoma (disease) ICD9:239.89|MedDRA:10043670|HP:0100522|Orphanet:99867|ONCOTREE:THYM|ICD10:D15.0|ICDO:8580/1|UMLS:C0040100|EFO:1000581|ICD10:D38.4|SCTID:444231005|DOID:3275|NCIT:C3411 owl:Class MONDO:0018079 biolink:NamedThing thymic epithelial neoplasm An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. mondoexuq1wtf epithelial neoplasm of the Thymus|thymic epithelial tumor|TEN|Tet|thymic epithelium neoplasm|Thymus epithelial tumor|Thymus epithelial neoplasm|epithelial tumor of Thymus|thymoma, adult|epithelial tumor of the Thymus|epithelial neoplasm of Thymus|thymus epithelial neoplasm UMLS:C1266101|MESH:C536905|ONCOTREE:TET|GARD:0005201|ICD10:C37|NCIT:C6450|ICD10:D15.0|Orphanet:3398 owl:Class MONDO:0003349 biolink:NamedThing central nervous system leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells. mondoexuq1wtf CNS leiomyosarcoma|leiomyosarcoma of the CNS|leiomyosarcoma of central nervous system|leiomyosarcoma of CNS|leiomyosarcoma of the central nervous system|central nervous system leiomyosarcoma DOID:5254|UMLS:C1334385|NCIT:C6999 owl:Class MONDO:0005058 biolink:NamedThing leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. mondoexuq1wtf leiomyosarcoma - not uterine|leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma|Leiomyosarcomas|leiomyosarcoma, malignant UMLS:C0023269|GARD:0006880|MESH:D007890|ICD10:C49.9|Orphanet:64720|ICDO:8890/3|EFO:0000564|SCTID:443719001|DOID:1967|MedDRA:10024189|NCIT:C3158|ONCOTREE:LMS|ICD9:171.9 https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma owl:Class MONDO:0008875 biolink:NamedThing blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. mondoexuq1wtf Frydman-Cohen-Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome MESH:C536235|SCTID:717914000|OMIM:210745|Orphanet:2057|ICD10:Q87.8|GARD:0000905 owl:Class MONDO:0043008 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability|genetic MCA|genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism) Orphanet:330206 owl:Class MONDO:0015776 biolink:NamedThing rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. mondoexuq1wtf rhizomelic dwarfism|rhizomelic chondrodysplasia punctata syndrome|chondrodysplasia punctata, rhizomelic form|RCDP ICD10:E71.540|ICD10:Q77.3|OMIMPS:215100|GARD:0013160|NCIT:C85047|Orphanet:177|MESH:D018902|UMLS:C0282529|DOID:2580|SCTID:56692003 https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata owl:Class MONDO:0020232 biolink:NamedThing musculoskeletal disease with cataract mondoexuq1wtf Orphanet:98648|UMLS:CN207060 owl:Class MONDO:0018316 biolink:NamedThing fatal post-viral neurodegenerative disorder mondoexuq1wtf ICD10:G04.8|UMLS:CN204961|Orphanet:391343 owl:Class MONDO:0015144 biolink:NamedThing brain inflammatory disease An inflammatory disease involving a pathogenic inflammatory response in the brain. mondoexuq1wtf inflammation of brain|brain inflammation UMLS:CN197488|Orphanet:102005 owl:Class MONDO:0010668 biolink:NamedThing skeletal dysplasia-intellectual disability syndrome Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. mondoexuq1wtf intellectual disability, skeletal dysplasia, and abducens palsy|mental retardation skeletal dysplasia abducens palsy|MRSD|intellectual disability skeletal dysplasia abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|Christian syndrome UMLS:C1839729|ICD10:Q87.5|Orphanet:1436|SCTID:722478008|MESH:C564101|OMIM:309620|GARD:0003520 https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy owl:Class MONDO:0010018 biolink:NamedThing second metatarsal-metacarpal syndrome mondoexuq1wtf second metatarsal-metacarpal syndrome MESH:C564824|OMIM:269630|UMLS:C1849259 owl:Class MONDO:0011191 biolink:NamedThing capillary infantile hemangioma mondoexuq1wtf HCI|hemangioma, hereditary capillary|hemangioma, capillary infantile Editor note: consider merging or making class explicitly for inherited forms. Note also Orphanet equiv is obsolete UMLS:C1865871|MESH:C535860|OMIM:602089|Orphanet:91415 owl:Class MONDO:0006500 biolink:NamedThing hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. mondoexuq1wtf angioma|hemangioma, benign|benign hemangioma|hemangioma|benign angioma COHD:441818|ICD10:D18.00|ICD9:228.09|SCTID:400210000|NCIT:C3085|ICD9:228.00|MESH:D006391|EFO:1000635|ICD9:228.0|DOID:255|UMLS:C0018916|ONCOTREE:HEMA|ICDO:9120/0|HP:0001028|GARD:0010759|ICD10:D18.0 owl:Class MONDO:0003695 biolink:NamedThing ovarian clear cell adenofibroma An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. mondoexuq1wtf clear cell adenofibroma of ovary|ovary clear cell adenofibroma|ovarian clear cell adenofibroma NCIT:C40085|DOID:5897|UMLS:C1518694 owl:Class MONDO:0000646 biolink:NamedThing ovarian benign neoplasm A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. mondoexuq1wtf benign neoplasm of the ovary|benign neoplasm of ovary|benign ovarian neoplasm|ovary benign neoplasm|benign ovarian tumor|benign tumor of the ovary|benign tumor of ovary SCTID:92260003|COHD:199764|NCIT:C2895|EFO:1000116|DOID:0060112 owl:Class MONDO:0000836 biolink:NamedThing disease of bone structure mondoexuq1wtf bone structure disease DOID:0080010 owl:Class MONDO:0005381 biolink:NamedThing bone disease Diseases of bones. mondoexuq1wtf bone element disease or disorder|disorder of bone element|bone element disease|disease or disorder of bone element|rare bone disease related to a common gene or pathway defect|skeletal disease|disease of bone element Orphanet:364803|ICD9:731.8|SCTID:76069003|MESH:D001847|EFO:0004260|ICD10:M89.9|UMLS:C0005940|ICD9:733.99|UMLS:CN204768|DOID:0080001 owl:Class MONDO:0011694 biolink:NamedThing spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. mondoexuq1wtf spinocerebellar ataxia 15|spinocerebellar ataxia 16, formerly|spinocerebellar ataxia type 15|spinocerebellar ataxia type 15/16|spinocerebellar ataxia 16|SCA15/16|SCA15|spinocerebellar ataxia 16 (formerly)|SCA16 (formerly) In orphanet, SCA16 is obsoleted in favor of 15/16 SCTID:716724006|DOID:0050965|MESH:C564685|OMIM:606658|GARD:0010477|ICD10:G11.2|Orphanet:98769|UMLS:C1847725|UMLS:C4274322 owl:Class MONDO:0019792 biolink:NamedThing autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. mondoexuq1wtf cerebellar plus syndrome|ADCAI|ADCA1|autosomal dominant cerebellar ataxia type 1 ICD10:G11.8|UMLS:CN206744|Orphanet:94145 owl:Class MONDO:0010383 biolink:NamedThing fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. mondoexuq1wtf X-linked intellectual disability and macroorchidism|fragile 10 mental retardation syndrome|FraX syndrome|fra(X) syndrome|fragile 10 syndrome|intellectual disability, X-linked, associated with Marxq28|Martin-Bell syndrome|fragile 10 intellectual disability syndrome|mental retardation, X-linked, associated with Marxq28|marker 10 syndrome|primary ovarian insufficiency, fragile X-associated|X-linked mental retardation and macroorchidism|FRAXA syndrome|fragile X intellectual disability syndrome|fragile X mental retardation syndrome|FXS|fragile 10 premature ovarian failure|fragile X syndrome|marker X syndrome SCTID:613003|ICD10:Q99.2|GARD:0006464|OMIM:300624|MedDRA:10017324|NCIT:C84717|Orphanet:908|UMLS:C0016667|ICD9:759.83|COHD:436803|DOID:14261|MESH:D005600 owl:Class MONDO:0043005 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 owl:Class MONDO:0004245 biolink:NamedThing ependymal tumor of brain A tumor arising from the ependymal lining of the ventricles. mondoexuq1wtf brain ependymoma|ependymoma of brain|ependymal tumor of brain|brain ependymal tumor UMLS:C0238029|NCIT:C3861|DOID:7497|SCTID:254939008 owl:Class MONDO:0005499 biolink:NamedThing brain glioma A malignant glioma that involves the brain. mondoexuq1wtf brain malignant glioma|malignant glioma of brain SCTID:254937005|EFO:0005543|DOID:0060108|UMLS:C0349661 owl:Class MONDO:0016603 biolink:NamedThing citrullinemia type II Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. mondoexuq1wtf citrullinemia type II|adult-onset type 2 citrullinemia|adult-onset type II citrullinemia|CTLN2|adult-onset citrin deficiency|citrullinemia type 2 Orphanet:247585|SCTID:716863007|NCIT:C150603|ICD10:E72.2 owl:Class MONDO:0016602 biolink:NamedThing citrin deficiency Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). mondoexuq1wtf Orphanet:247582|UMLS:C1997910|SCTID:429735007|ICD10:E72.2 owl:Class MONDO:0016713 biolink:NamedThing central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone. mondoexuq1wtf CNS PNET|central nervous system primitive neuroectodermal tumor|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor|central nervous system PNET Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma MedDRA:10057846|Orphanet:251870|NCIT:C129537 owl:Class MONDO:0016708 biolink:NamedThing embryonal tumor of neuroepithelial tissue mondoexuq1wtf UMLS:CN201955|Orphanet:251852 owl:Class MONDO:0012127 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. mondoexuq1wtf limb-girdle muscular dystrophy type 2J|TTN autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN|muscular dystrophy, limb-girdle, type 2J|LGMD2J OMIM:608807|UMLS:C1837342|ICD10:G71.0|MESH:C563854|DOID:0110283|Orphanet:140922|GARD:0012534 owl:Class MONDO:0001129 biolink:NamedThing nasal cavity olfactory neuroblastoma An olfactory neuroblastoma arising in the nasal cavity. mondoexuq1wtf olfactory neuroblastoma of nasal cavity|nasal cavity olfactory neuroblastoma|olfactory neuroblastoma of the nasal cavity NCIT:C7604|UMLS:C1334923|DOID:10812 owl:Class MONDO:0006329 biolink:NamedThing olfactory neuroblastoma An olfactory neuroblastoma arising in the paranasal sinus. mondoexuq1wtf Asthesioneuroblastoma (morphologic abnormality)|olfactory neuroblastoma|Esthesioneuroepithelioma (morphologic abnormality)|paranasal sinus olfactory neuroblastoma|olfactory esthesioneuroblastoma|Esthesioneuroepithelioma|olfactory neuroepithelioma|esthesioneuroblastoma|Esthesioneuroepithelioma [dup] (morphologic abnormality)|Asthesioneuroblastoma|esthesioneuroblastoma (morphologic abnormality) DOID:369|ICDO:9523/3|ONCOTREE:ONBL|EFO:1000407|NCIT:C3789|ICDO:9522/3 owl:Class MONDO:0016642 biolink:NamedThing meningioma A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) mondoexuq1wtf primary meningeal tumor|meningeal neoplasm|meningothelial cell tumor|intracranial meningioma|supratentorial meningioma|meningioma|meningioma (disease) meningioma (disease) ICD10:D32.9|NCIT:C3230|UMLS:C0025286|MESH:D008579|ICDO:9530/0|GARD:0007015|HP:0002858|Orphanet:2495|MedDRA:10027191|SCTID:302820008|DOID:3565|ONCOTREE:MNG owl:Class MONDO:0016743 biolink:NamedThing tumor of meninges A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. mondoexuq1wtf meningeal cluster neoplasm|meninges tumor|neoplasm of meninges|neoplasm of meningeal cluster|meningeal neoplasm|meningeal cluster rare nervous system tumor|meningeal cluster neoplasm (disease)|meningeal cluster tumor|tumor of meningeal cluster|neoplasm of the meninges|tumor of meninges|meninges neoplasm|tumor of the meninges|meningeal neoplasms|meningothelial tumor|meningeal tumor Orphanet:252025|MedDRA:10061282|SCTID:126965008|ONCOTREE:MNGT|UMLS:C0025284|ICD9:239.7|NCIT:C3229 owl:Class MONDO:0012620 biolink:NamedThing prostate cancer, hereditary, 10 mondoexuq1wtf HPC10|prostate cancer, hereditary, 10 OMIM:611100|MESH:C567011|UMLS:C1970192 owl:Class MONDO:0023122 biolink:NamedThing familial prostate carcinoma Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. mondoexuq1wtf hereditary prostate cancer|prostate cancer, familial|familial prostate cancer|prostate cancer, hereditary|hereditary prostate carcinoma Editor note: check OMIM GARD:0004520|OMIM:176807|Orphanet:1331|SCTID:715412008|UMLS:C2931456|UMLS:CN036094|GTR:AN0101368|GTR:AN0101369|NCIT:C103817 https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer owl:Class MONDO:0008909 biolink:NamedThing congenital disorder of glycosylation, type i/IIx mondoexuq1wtf congenital disorder of glycosylation, type i/IIx|CDG X|congenital disorder of glycosylation type I/IIX|CDG-X MESH:C562844|UMLS:C0349655|OMIM:212067|GARD:0009840 https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix owl:Class MONDO:0010994 biolink:NamedThing micromelic dwarfism, Fryns type mondoexuq1wtf spondyloepimetaphyseal dysplasia micromelic|spondyloepimetaphyseal dysplasia, micromelic|dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|SEMD, micromelic|micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects SCTID:715479009|UMLS:C1832800|MESH:C537556|ICD10:Q77.8|OMIM:601096|Orphanet:2641|GARD:0003642 owl:Class MONDO:0016761 biolink:NamedThing spondyloepiphyseal dysplasia An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. mondoexuq1wtf SED and SEMD|spondylo-epi-(meta)-physeal dysplasia|spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia ICD10:Q77.7|ICD9:756.9|SCTID:254062008|Orphanet:252|GARD:0007687|MedDRA:10062920|DOID:0080027|Orphanet:253 owl:Class MONDO:0100106 biolink:NamedThing neonatal epileptic encephalopathy A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. mondoexuq1wtf http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005579 biolink:NamedThing epilepsy, idiopathic generalized A chronic condition characterised by recurrent generalised seizures. mondoexuq1wtf EIG|idiopathic generalized epilepsy|epilepsy, idiopathic generalized|generalised epilepsy|generalized epilepsy NCIT:C3021|OMIMPS:600669|EFO:0005917|MESH:D004829|SCTID:19598007|DOID:1827 owl:Class MONDO:0020738 biolink:NamedThing multiple benign circumferential skin creases on limbs 1 mondoexuq1wtf skin creases, congenital symmetric circumferential, 1|CSCSC1 OMIM:156610 owl:Class MONDO:0024255 biolink:NamedThing genetic skin disease An instance of skin disease that is caused by a modification of the individual's genome. mondoexuq1wtf genodermatosis|genetic skin disease|disease, genetic skin|genetic skin diseases|skin disease, genetic|diseases, genetic skin SCTID:239001006|MESH:D012873 owl:Class MONDO:0005984 biolink:NamedThing tinea pedis Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. mondoexuq1wtf pes dermatophytosis|dermatophytosis of pes|ringworm of foot|dermatophytosis of foot|athlete's foot ICD9:110.4|ICD10:B35.3|COHD:133141|DOID:12403|UMLS:C0040259|MESH:D014008|EFO:0007512|SCTID:6020002 owl:Class MONDO:0004678 biolink:NamedThing dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. mondoexuq1wtf dermatomycosis|skin disease, fungal|ringworm|skin diseases, fungal|fungal skin diseases|fungal skin disease Editor note: check cutaneous vs superficial ICD9:110.9|ICD9:110|COHD:135473|UMLS:C0011636|NCIT:C26745|ICD9:110.8|DOID:8913|ICD10:B35|ICD10:B35.9|SCTID:47382004 owl:Class MONDO:0007886 biolink:NamedThing uterine corpus leiomyoma A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. mondoexuq1wtf fibroid of corpus uteri|uterine leiomyoma|leiomyoma of the body of uterus|fibroid of the body of uterus|uterine corpus leiomyomata|body of uterus leiomyoma|leiomyoma of the uterine body|uterine body fibroid|uterine fibroid|fibroid of the uterine body|fibroid of the corpus uteri|leiomyoma, uterine|plexiform leiomyoma|leiomyoma of uterine body|uterine body leiomyoma|corpus uteri fibroid|fibroid of the uterine corpus|uterine corpus fibroid|uterus fibroma|leiomyoma of the uterine corpus|leiomyoma of the corpus uteri|leiomyoma of body of uterus|fibroid of uterine corpus|fibroid of uterine body|corpus uteri leiomyoma|leiomyoma of corpus uteri|UL|body of uterus fibroid|fibroid of body of uterus|leiomyoma of uterine corpus|uterine corpus leiomyoma ICD9:218.9|OMIM:150699|HP:0000131|UMLS:C2242776|EFO:0000731|NCIT:C3434|UMLS:C0042133|DOID:13223|SCTID:95315005|ICD9:218|ICD10:D25.9|ICD10:D25|ONCOTREE:ULM|COHD:197236 owl:Class MONDO:0017127 biolink:NamedThing inherited soft tissue tumor An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary mesenchymal cell neoplasm|genetic soft tissue tumor|genetic mesenchymal tumor|genetic mesenchymal cell neoplasm UMLS:CN202526|Orphanet:271832 owl:Class MONDO:0012118 biolink:NamedThing COG7-CDG COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. mondoexuq1wtf congenital disorder of glycosylation, type IIe|congenital disorder of glycosylation type 2e|CDG IIe|CDG2E|CDG-IIe|carbohydrate deficient glycoprotein syndrome type IIe|COG7-CDG (CDG-IIe)|CDG 2E|CDG syndrome type IIe|congenital disorder of glycosylation type IIe GARD:0009842|MESH:C535754|OMIM:608779|Orphanet:79333|SCTID:717773005|ICD10:E77.8 owl:Class MONDO:0005501 biolink:NamedThing congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. mondoexuq1wtf B4GALT1-CDG (CDG-2d)|MGAT2-CDG (CDG-2a)|MGAT2-CDG|MOGS-CDG (CDG-2b)|MOGS-CDG|congenital disorders of glycosylation, type II|B4GALT1-CDG MESH:C535747|OMIMPS:212066|EFO:0005546|DOID:0050571 owl:Class MONDO:0012788 biolink:NamedThing coronary heart disease, susceptibility to, 9 mondoexuq1wtf coronary heart disease, susceptibility to, 9|CHDS9 OMIM:612030 owl:Class MONDO:0005010 biolink:NamedThing coronary artery disease Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) mondoexuq1wtf CHD (coronary heart disease)|CAD|coronary arteriosclerosis|disease of coronary artery|coronary disease|disorder of coronary artery|coronary artery disease or disorder|CHD|coronary artery disease|disease or disorder of coronary artery|coronary heart disease GARD:0011944|ICD9:410-414.99|ICD10:I25.10|ICD10:I25.9|MESH:D003324|UMLS:C1956346|ICD10:I25.1|ICD10:I20-I25|ICD9:414.0|COHD:317576|ICD10:K76.1|DOID:3393|EFO:0001645|ICD9:414.9|ICD10:I25|SCTID:414024009|NCIT:C26732 owl:Class MONDO:0013184 biolink:NamedThing congenital diarrhea 5 with tufting enteropathy Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. mondoexuq1wtf intestinal epithelial cell dysplasia|EPCAM secretory diarrhea|DIAR5|congenital tufting enteropathy|IED|secretory diarrhea caused by mutation in EPCAM|enteropathy, congenital tufting|diarrhea 5, with tufting enteropathy, congenital|congenital enteropathy|congenital familial intractable diarrhea with enterocytes assembly abnormalities|tufting enteropathy|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|intestinal epithelial dysplasia UMLS:C4275062|SCTID:715669000|ICD10:P78.3|UMLS:C2750737|MESH:C567703|DOID:0060776|Orphanet:92050|OMIM:613217|GARD:0010630 owl:Class MONDO:0019126 biolink:NamedThing intractable diarrhea of infancy Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. mondoexuq1wtf IDI Orphanet:73014 owl:Class MONDO:0006260 biolink:NamedThing kidney medullary carcinoma A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. mondoexuq1wtf carcinoma of renal medulla|renal medulla carcinoma|renal medullary carcinoma|kidney medullary carcinoma MONDO:0017888 Orphanet:319319|UMLS:CN203938|EFO:1000314|ICD10:C64|NCIT:C7572|GARD:0013175|MedDRA:10064886|ONCOTREE:MRC owl:Class MONDO:0005086 biolink:NamedThing renal cell carcinoma A carcinoma that arises from glandular epithelial cells of the kidney mondoexuq1wtf renal cell carcinoma|RCC|renal cell carcinoma (disease)|hypernephroma|kidney adenocarcinoma|renal cell adenocarcinoma renal cell carcinoma (disease) SCTID:702391001|GARD:0013215|MedDRA:10067946|DOID:4450|Orphanet:217071|MESH:D002292|HP:0005584|EFO:0000681|ICD9:189.0|ONCOTREE:RCC owl:Class MONDO:0017021 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a connective tissue disease mondoexuq1wtf secondary ILD specific to childhood associated with a connective tissue disease Orphanet:264704|UMLS:CN202334 owl:Class MONDO:0017020 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a systemic disease mondoexuq1wtf secondary ILD specific to childhood associated with a systemic disease UMLS:CN202333|Orphanet:264699 owl:Class MONDO:0021249 biolink:NamedThing lip neoplasm A neoplasm (disease) that involves the lip. mondoexuq1wtf tumor of the Lip|neoplasm of Lip|lip neoplasm (disease)|tumor of lip|tumor of Lip|neoplasm of lip|lip neoplasms|lip tumor|neoplasm of the Lip SCTID:126770008|NCIT:C3191 owl:Class MONDO:0004748 biolink:NamedThing lip disease A disease involving the lip. mondoexuq1wtf lip disease or disorder|disease of lips|lip disease|disorder of lip|lip disorder|disease of lip|disease or disorder of lip MESH:D008047|NCIT:C26818|ICD9:528.5|ICD10:K13.0|DOID:9297|UMLS:C0023760|SCTID:90678009 owl:Class MONDO:0014944 biolink:NamedThing short stature-brachydactyly-obesity-global developmental delay syndrome mondoexuq1wtf short stature, brachydactyly, intellectual developmental disability, and seizures|SBIDDS UMLS:C4310689|Orphanet:464288|OMIM:617157 owl:Class MONDO:0005824 biolink:NamedThing Legionnaires' disease A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. mondoexuq1wtf Legionella|infection by Legionella pneumophilia|legionnaire's disease|Legionella pneumonia EFO:0007343|SCTID:195889001|ICD9:482.84|MESH:D007877|DOID:10457|ICD10:A48.1|NCIT:C128339 owl:Class MONDO:0005823 biolink:NamedThing legionellosis Any disease caused by Legionella bacteria. mondoexuq1wtf Legionnaires disease|Legionella infection MESH:D007876|NCIT:C128334|UMLS:C0023240|MedDRA:10061266|SCTID:26726000|Orphanet:549|UMLS:CN205282|ICD10:A48.1|EFO:0007342|DOID:10458|MedDRA:10035718 owl:Class MONDO:0008109 biolink:NamedThing ocular cicatricial pemphigoid Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. mondoexuq1wtf ocular cicatricial pemphigoid|pemphigoid, ocular cicatricial|OCP|cicatricial pemphigoid, ocular UMLS:C1282359|SCTID:314757003|GARD:0008759|OMIM:164185|NCIT:C84939|EFO:0008610 https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid owl:Class MONDO:0018746 biolink:NamedThing mucous membrane pemphigoid Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. mondoexuq1wtf ocular pemphigus|mucosal pemphigoid|cicatricial pemphigoid|Mucosynechial pemphigoid|benign mucous membrance pemphigoid|benign mucous membrane pemphigoid|benign mucosal pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous Membrane pemphigoid|ocular pemphigoid|benign mucous membrane pemphigoid with ocular involvement NCIT:C34907|DOID:11656|GARD:0005913|ICD10:L12.1|ICD9:694.61|EFO:1000680|COHD:376189|MedDRA:10057052|SCTID:76092003|ICD9:694.6|Orphanet:46486 owl:Class MONDO:0005636 biolink:NamedThing adenosarcoma A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. mondoexuq1wtf Müllerian adenosarcoma|mullerian adenosarcoma|Mullerian adenosarcoma|adenosarcoma (morphologic abnormality)|adenosarcoma UMLS:C0001442|DOID:1974|EFO:0007134|MESH:D018195|NCIT:C9474|ICDO:8933/3 owl:Class MONDO:0005853 biolink:NamedThing malignant mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. mondoexuq1wtf tumor, malignant mixed|malignant mixed tumors|malignant mixed cancer|mixed neoplasm, malignant|mixed tumors, malignant|tumors, malignant mixed|mixed tumor|tumor, mixed, malignant|malignant mixed neoplasm|mixed tumor, malignant (morphologic abnormality)|mixed tumor, malignant|malignant mixed tumor|mixed neoplasm|mixed cell type cancer|mixed tumor, malignant, NOS (morphologic abnormality) UMLS:C0206625|DOID:154|EFO:0007373|NCIT:C3729|ICDO:8940/3|MESH:D018198|EFO:1000356 owl:Class MONDO:0009395 biolink:NamedThing hyperostosis corticalis generalisata Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. mondoexuq1wtf endosteal hyperostosis|VBCH|hyperostosis corticalis generalisata|endosteal hyperostosis autosomal recessive|endosteal hyperostosis, autosomal recessive|VAN Buchem disease|van Buchem disease|van Buchem disease type 1|hyperphosphatasemia tarda|Van Buchem disease|SOST-related sclerosing bone dysplasia OMIM:239100|SCTID:59763006|NCIT:C131812|ICD10:M85.2|Orphanet:3416|DOID:0080036|GARD:0002833 owl:Class MONDO:0019091 biolink:NamedThing bronchopulmonary dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. mondoexuq1wtf BPD UMLS:C0006287|ICD10:P27.1|Orphanet:70589|MESH:D001997|NCIT:C90599|GARD:0005962|SCTID:67569000|MedDRA:10006475 https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia owl:Class MONDO:0015930 biolink:NamedThing respiratory malformation mondoexuq1wtf Orphanet:182111 owl:Class MONDO:0003296 biolink:NamedThing cellular leiomyoma A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. mondoexuq1wtf cellular leiomyoma|cellular leiomyoma (morphologic abnormality) NCIT:C4256|UMLS:C0334477|ICDO:8892/0|DOID:5139 owl:Class MONDO:0001572 biolink:NamedThing leiomyoma A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. mondoexuq1wtf leiomyomatous neoplasm (morphologic abnormality)|leiomyoma|leiomyoma, benign|fibroid|fibroid tumor|fibroid neoplasm|leiomyomatous neoplasm|leiomyomatous tumor MESH:D007889|NCIT:C3157|SCTID:146801000119103|UMLS:C0023267|ICD9:215.9|ICDO:8890/0|DOID:127 owl:Class MONDO:0017045 biolink:NamedThing neuroectodermal-endocrine syndrome Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. mondoexuq1wtf Oerter-Friedman-Anderson syndrome|neuroectodermal endocrine syndrome Orphanet:2676|SCTID:724090001|GARD:0003959|UMLS:CN202391|ICD10:E31.8 https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome owl:Class MONDO:0006838 biolink:NamedThing lupus vulgaris A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. mondoexuq1wtf MedDRA:10025143|EFO:1001023|MESH:D008177|UMLS:C0024131|SCTID:10528009 owl:Class MONDO:0018076 biolink:NamedThing tuberculosis A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. mondoexuq1wtf TB|tuberculosis disease|Kochs disease|active tuberculosis ICD10:A15.A19|ICD9:017.90|NCIT:C3423|Orphanet:3389|ICD9:017.94|GARD:0007827|MedDRA:10044755|ICD9:017.96|ICD9:017.92|MESH:D014376|DOID:399|UMLS:C0041296|SCTID:56717001|COHD:434557|UMLS:C0151332 https://rarediseases.info.nih.gov/diseases/7827/tuberculosis owl:Class MONDO:0017086 biolink:NamedThing primary tethered cord syndrome Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. mondoexuq1wtf segmental vertebral anomalies|occult spinal dysraphism|occult spinal dysraphism sequence|tethered cord syndrome|primary tethered spinal cord syndrome SCTID:70534000|GARD:0004018|Orphanet:268861|UMLS:CN202446 owl:Class MONDO:0018075 biolink:NamedThing neural tube defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. mondoexuq1wtf NTD|spinal dysraphism DOID:0080074|Orphanet:3388|SCTID:253098009|NCIT:C84923|MESH:D009436|ICD9:742.8 owl:Class MONDO:0017203 biolink:NamedThing chronic endophthalmitis Chronic form of endophthalmitis. mondoexuq1wtf endophthalmitis, chronic COHD:443867|UMLS:C0154774|Orphanet:279891|ICD9:360.03|ICD10:H44.0|DOID:10697|ICD10:H44.1|SCTID:13978000|MedDRA:10008864 owl:Class MONDO:0004863 biolink:NamedThing purulent endophthalmitis mondoexuq1wtf UMLS:C0259800|COHD:432621|DOID:9724|ICD9:360.00|SCTID:41720003|ICD10:H44.00|ICD10:H44.0|ICD9:360.0 owl:Class MONDO:0012207 biolink:NamedThing umbilicus, familial flat mondoexuq1wtf flat umbilicus familial|flat umbilicus, autosomal dominant|flat umbilicus autosomal dominant|umbilicus, familial flat OMIM:609164|UMLS:C1836682|MESH:C537059|GARD:0009490 https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial owl:Class MONDO:0011782 biolink:NamedThing angioid streaks Small breaks in the elastin-filled tissue of the retina. mondoexuq1wtf angioid streaks OMIM:607140|UMLS:C0002982|MedDRA:10066191|DOID:13401|EFO:1000805|MESH:D000793 owl:Class MONDO:0005283 biolink:NamedThing retinal disease Any disease or disorder of the retina. mondoexuq1wtf retina eye disease|eye disease of retina|retinopathy NCIT:C62601|MESH:D012164|HGNC:8002|ICD9:362.89|SCTID:29555009|DOID:5679|DC:0000592|COHD:376103|EFO:0003839|ICD10:H35.9|ICD9:362.9|UMLS:C0035309 owl:Class MONDO:0011715 biolink:NamedThing Seckel syndrome 2 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. mondoexuq1wtf Seckel-type dwarfism 2|RBBP8 Seckel syndrome|Seckel syndrome caused by mutation in RBBP8|microcephalic primordial dwarfism 2|SCKL2|Seckel syndrome 2|Seckel syndrome type 2 MESH:C537534|OMIM:606744|DOID:0070013|UMLS:C1847572 owl:Class MONDO:0019342 biolink:NamedThing Seckel syndrome A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. mondoexuq1wtf Seckel-type Dwarfism|Virchow-Seckel dwarfism|bird-headed dwarfism|nanocephalic Dwarfism|Harper's syndrome|SCKL UMLS:C0265202|OMIMPS:210600|SCTID:57917004|DOID:0050569|ICD10:Q87.1|ICD9:759.89|NCIT:C125488|GARD:0008562|Orphanet:808 owl:Class MONDO:0012781 biolink:NamedThing celiac disease, susceptibility to, 12 mondoexuq1wtf CELIAC12|celiac disease, susceptibility to, 12|gluten-sensitive enteropathy, susceptibility to, 12 OMIM:612010 owl:Class MONDO:0005130 biolink:NamedThing celiac disease An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. mondoexuq1wtf celiac sprue|idiopathic steatorrhea|gluten-induced enteropathy|non tropical sprue|coeliac disease GARD:0011998|ICD9:579.0|MESH:D002446|COHD:194992|UMLS:C0007570|EFO:0001060|SCTID:396331005|ICD10:K90.0|OMIMPS:212750|NCIT:C26714|DOID:10608 owl:Class MONDO:0016817 biolink:NamedThing Meier-Gorlin syndrome Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). mondoexuq1wtf ear-patella-short stature syndrome|Meier-Gorlin syndrome ICD10:Q87.1|OMIMPS:224690|MESH:C538012|GARD:0002033|DOID:0060306|Orphanet:2554|MedDRA:10070612 owl:Class MONDO:0019712 biolink:NamedThing patellar dysostosis mondoexuq1wtf Orphanet:93455 owl:Class MONDO:0019080 biolink:NamedThing alopecia totalis Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. mondoexuq1wtf total alopecia areata|alopecia totalis Orphanet:700|UMLS:C0263504|ICD9:704.09|GARD:0000613|MedDRA:10001766|ICD10:L63.0|SCTID:19754005 owl:Class MONDO:0004907 biolink:NamedThing alopecia Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. mondoexuq1wtf alopecia|hair loss|alopecia areata|loss Of hair ICD10:L65.9|ICD9:704.00|UMLS:C0002170|ICD9:704.09|COHD:133280|MESH:D000505|SCTID:56317004|NCIT:C50575|DOID:987|Orphanet:79364|ICD9:704.0 owl:Class MONDO:0007657 biolink:NamedThing giant neutrophil leukocytes mondoexuq1wtf giant neutrophil leukocytes UMLS:C1842039|OMIM:137500 owl:Class MONDO:0010288 biolink:NamedThing adrenomyodystrophy Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. mondoexuq1wtf adrenomyodystrophy OMIM:300270|GARD:0000562|Orphanet:977|SCTID:763311001|UMLS:C1846044|MESH:C538051 owl:Class MONDO:0015129 biolink:NamedThing chronic primary adrenal insufficiency Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. mondoexuq1wtf chronic adrenocorticoid insufficiency|Addison disease|Addison's disease|CPAI|primary adrenal insufficiency, chronic|Primary Hypoadrenalism NCIT:C26689|Orphanet:101959 owl:Class MONDO:0004542 biolink:NamedThing cervical adenosquamous carcinoma, glassy cell variant A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. mondoexuq1wtf glassy cell carcinoma of the cervix|glassy cell variant cervical adenosquamous carcinoma|glassy cell adenocarcinoma of the uterine cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|GCC of the cervix Orphanet:213833|NCIT:C40212|ICD10:C53.8|ONCOTREE:CEGCC|ICD10:C53.0|MESH:C536823|DOID:8361|ICD10:C53.1|GARD:0008437 https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix owl:Class MONDO:0006134 biolink:NamedThing cervical adenosquamous carcinoma An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. mondoexuq1wtf adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of the uterine cervix|cervical adenosquamous cancer|cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix uteri|adenosquamous carcinoma of cervix|adenosquamous cell carcinoma of the cervix|cervical adenosquamous carcinoma|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix uteri|cervical adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix|uterine cervix adenosquamous cell carcinoma SCTID:254888007|NCIT:C4519|EFO:1000162|UMLS:C0346202|DOID:5636|ONCOTREE:CEAS owl:Class MONDO:0030868 biolink:NamedThing spermatogenic failure 49 mondoexuq1wtf SPGF49|spermatogenic failure 49 OMIM:619144 owl:Class MONDO:0004983 biolink:NamedThing azoospermia Complete absence of spermatozoa in the semen. mondoexuq1wtf spermatogenic failure ICD10:N46.0|EFO:0000279|ICD10:N46.01|ICD9:606.0|DOID:14227|MESH:D053713|UMLS:C0004509|COHD:4143116|OMIMPS:258150|SCTID:425558002 owl:Class MONDO:0024664 biolink:NamedThing hypertension, pregnancy-induced A hypertensive disorder that develops during pregnancy. mondoexuq1wtf hypertension, pregnancy induced|transient hypertension, pregnancy|pregnancy-induced hypertension|induced hypertension, pregnancy|hypertension-associated pregnancy disorder|pregnancy induced hypertension|hypertension associated disorders of pregnancy|hypertension, pregnancy transient|hypertension induced by pregnancy|hypertension complicating pregnancy|gestational hypertension|induced Hypertensions, pregnancy|hypertensions, pregnancy induced|hypertension, gestational|pregnancy transient hypertension MONDO:0024581 SCTID:48194001|NCIT:C9243|MESH:D046110 owl:Class MONDO:0005044 biolink:NamedThing hypertensive disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. mondoexuq1wtf blood pressure, high|high blood pressure|hypertensive disease|HTN|blood pressure, increased|pressure, high blood|hypertension|vascular hypertensive disorder|hyperpiesia|increased blood pressure ICD10:I10-I15|UMLS:C0020538|ICD10:I15|ICD10:I10|EFO:0000537|ICD9:997.91|NCIT:C3117|DOID:10763|SCTID:38341003|HP:0000822|MESH:D006973|ICD9:401-405.99 owl:Class MONDO:0008721 biolink:NamedThing medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. mondoexuq1wtf acyl-CoA dehydrogenase medium chain deficiency of|MCADD|acyl-CoA dehydrogenase, medium-chain deficiency|medium-chain acyl-CoA dehydrogenase deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|ACADMD|Mcadh deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|medium chain acyl CoA dehydrogenase deficiency|medium-chain acyl-Coenzyme A dehydrogenase deficiency|MCAD deficiency|MCAD|ACADM deficiency ICD10:E71.3|NCIT:C84538|Orphanet:42|ICD10:E71.311|OMIM:201450|GARD:0000540|ICD9:277.85|DOID:0080153|SCTID:128596003|MESH:C536038|UMLS:C0220710 owl:Class MONDO:0044976 biolink:NamedThing disease of catalytic activity mondoexuq1wtf enzymopathy|enzyme disorder UMLS:C0520572|SCTID:78548001 owl:Class MONDO:0012557 biolink:NamedThing cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. mondoexuq1wtf hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|Mpcd|mitochondrial phosphate carrier deficiency Orphanet:91130|ICD10:G71.3|UMLS:C1835845|UMLS:C4305259|MESH:C563665|SCTID:718713000|OMIM:610773 owl:Class MONDO:0006040 biolink:NamedThing lactic acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. mondoexuq1wtf MESH:D000140|SCTID:91273001|UMLS:C0001125 owl:Class MONDO:0026731 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 8 mondoexuq1wtf HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8|CHNG8 OMIM:301033 owl:Class MONDO:0000045 biolink:NamedThing hypothyroidism, congenital, nongoitrous mondoexuq1wtf DC:0000217|OMIMPS:275200 owl:Class MONDO:0019844 biolink:NamedThing pituitary hormone deficiency secondary to storage disease mondoexuq1wtf Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120 UMLS:CN206788|Orphanet:95618 owl:Class MONDO:0015127 biolink:NamedThing pituitary deficiency mondoexuq1wtf Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes Orphanet:101957|ICD10:E23.0 owl:Class MONDO:0042976 biolink:NamedThing vitamin B deficiency A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. mondoexuq1wtf deficiency, vitamin B|vitamin B deficiencies|deficiencies, vitamin B NCIT:C35129|UMLS:C0042850|MESH:D014804|SCTID:47903000 owl:Class MONDO:0024298 biolink:NamedThing vitamin deficiency disorder A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. mondoexuq1wtf avitaminosis|vitamin deficiency|deficiency, vitamin|vitamin deficiencies|vitamin deficiency disorder|Avitaminoses|deficiencies, vitamin NCIT:C35772|EFO:0005878|ICD9:269.2|MESH:D001361|UMLS:C0376286|ICD9:269.1|UMLS:C1510471|SCTID:85670002 owl:Class MONDO:0025457 biolink:NamedThing pulmonary adenomatosis, ovine A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus. mondoexuq1wtf Ovine pulmonary carcinoma|Adenomatoses, pulmonary Ovine|Ovine pulmonary carcinomas|carcinomas, Ovine pulmonary|Adenomatoses, Ovine pulmonary|pulmonary Adenomatoses, Ovine|Jaagsiekte|Ovine Adenomatoses, pulmonary|Ovine pulmonary Adenomatoses|Ovine adenomatosis, pulmonary|pulmonary Ovine Adenomatoses|pulmonary Ovine adenomatosis|adenomatosis, Ovine pulmonary|pulmonary carcinomas, Ovine|adenomatosis, pulmonary, Ovine|adenomatosis, pulmonary Ovine|Ovine pulmonary adenomatosis|carcinoma, Ovine pulmonary|pulmonary carcinoma, Ovine UMLS:C0034049|MESH:D011648 owl:Class MONDO:0024985 biolink:NamedThing sheep disease Diseases of domestic and mountain sheep of the genus Ovis. mondoexuq1wtf Ovine disease|diseases, sheep|diseases, Ovine|Ovine diseases|disease, Ovine|disease, sheep|sheep disease UMLS:C0036946|MESH:D012757 owl:Class MONDO:0014859 biolink:NamedThing developmental and epileptic encephalopathy, 37 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene. mondoexuq1wtf epileptic encephalopathy, early infantile, 37|EIEE37|DEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, 37; EIEE37|FRRS1L early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 37 UMLS:C4310770|OMIM:616981|DOID:0080435 owl:Class MONDO:0100062 biolink:NamedThing developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. mondoexuq1wtf epileptic encephalopathy, infantile|infantile spasm|Ohtahara syndrome|early infantile epileptic encephalopathy with burst-suppression|early infantile epileptic encephalopathy|developmental and epileptic encephalopathy|early infantile epileptic encephalopathy with suppression-bursts|EIEE|infantile epileptic encephalopathy|epileptic encephalopathy, early infantile 2018-10-10 22:04:15+00:00 Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. ICD9:345.10|Orphanet:1934|GARD:0009255|MedDRA:10071545|EFO:1000643|DOID:0050709|ICD10:G40.3|NCIT:C122814|ICD9:345.6|DOID:2481|OMIMPS:308350|SCTID:230429005|ICD10:G40.82 owl:Class MONDO:0001603 biolink:NamedThing paralytic lagophthalmos mondoexuq1wtf paralytic lagophthalmos|paralytic lagophthalmos (disease) paralytic lagophthalmos (disease) DOID:12958|UMLS:C0155197|HP:0030003|ICD10:H02.23|COHD:375821|ICD9:374.21 owl:Class MONDO:0001604 biolink:NamedThing lagophthalmos mondoexuq1wtf COHD:381021|ICD10:H02.2|ICD9:374.2|SCTID:60735000|ICD9:374.20|ICD10:H02.20|UMLS:C0152226|DOID:12959 owl:Class MONDO:0007091 biolink:NamedThing amelia and terminal transverse hemimelia mondoexuq1wtf amelia and terminal transverse hemimelia MESH:C566294|OMIM:104400|UMLS:C1863014 owl:Class MONDO:0001982 biolink:NamedThing Niemann-Pick disease A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. mondoexuq1wtf Niemann-Pick disease with cholesterol esterification block|sphingomyelin/cholesterol lipidosis|lipoid histiocytosis|lipoid histiocytosis (classical phosphatide)|sphingomyelinase deficiency disease|type A Niemann-Pick disease|Niemann-Pick disease, subacute juvenile form|sphingomyelin lipidosis DOID:14504|NCIT:C61269|MESH:D009542|EFO:1001380|SCTID:58459009|ICD10:E75.24|ICD10:E75.242|UMLS:C0028064|ICD10:E75.249|GARD:0013334 owl:Class MONDO:0017133 biolink:NamedThing genetic systemic or rheumatologic disease An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. mondoexuq1wtf hereditary systemic or rheumatic disease UMLS:CN202531|Orphanet:271870 https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0014770 biolink:NamedThing Joubert syndrome 25 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. mondoexuq1wtf JBTS25|Joubert syndrome caused by mutation in CEP104|Joubert syndrome 25|Joubert syndrome type 25|CEP104 Joubert syndrome OMIM:616781|UMLS:C4084842|DOID:0110994 owl:Class MONDO:0018772 biolink:NamedThing Joubert syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. mondoexuq1wtf CPD IV|cerebellar vermis agenesis|Joubert-Boltshauser syndrome|JBTS|cerebelloparenchymal disorder IV|pure Joubert syndrome|Joubert syndrome type A|classic Joubert syndrome Orphanet:475|NCIT:C74996|GARD:0006802|ICD10:Q04.3|DOID:0050777|OMIMPS:213300|SCTID:716997004 owl:Class MONDO:0007991 biolink:NamedThing microcephaly-deafness-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. mondoexuq1wtf Kawashima Tsuji syndrome|microcephaly deafness syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|Kawashima-Tsuji syndrome|microcephaly-deafness syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies Orphanet:2533|SCTID:716112005|ICD10:Q87.8|GARD:0000230|MESH:C537326|OMIM:156620|UMLS:C0796062 owl:Class MONDO:0019589 biolink:NamedThing syndromic genetic deafness mondoexuq1wtf syndromic hearing loss Orphanet:90642|ICD10:H90.3|SCTID:232333009|UMLS:CN206426 owl:Class MONDO:0019169 biolink:NamedThing pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. mondoexuq1wtf pyruvate decarboxylase deficiency|PDH|pyruvate dehydrogenase complex deficiency disease|PDHC|pyruvate dehydrogenase complex deficiency|pyruvate dehydrogenase deficiency|deficiency of pyruvic dehydrogenase DOID:3649|EFO:0007459|ICD10:E74.4|ICD9:277.89|NCIT:C103968|SCTID:46683007|OMIMPS:312170|GARD:0007513|Orphanet:765 owl:Class MONDO:0016402 biolink:NamedThing mitochondrial disease with epilepsy mondoexuq1wtf UMLS:CN201331|Orphanet:225700 owl:Class MONDO:0000503 biolink:NamedThing lung adenocarcinoma in situ A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion. mondoexuq1wtf lung adenosquamous cell carcinoma in situ|lung adenocarcinoma In situ|adenosquamous cell carcinoma in situ of lung|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|stage 0 adenosquamous lung carcinoma aJCC v7|stage 0 adenosquamous lung cancer|bronchioalveolar carcinoma|stage 0 adenosquamous cell lung carcinoma|stage 0 adenosquamous cell carcinoma of the lung|in situ pulmonary adenocarcinoma|stage 0 adenosquamous lung carcinoma aJCC v6|bronchioloalveolar carcinoma|adenosquamous cell carcinoma in situ of the lung|stage 0 adenosquamous cell carcinoma of lung Editor note: check why NCIT has two classes ONCOTREE:LAIS|NCIT:C8748|NCIT:C136486|DOID:0050870|UMLS:C0854971 owl:Class MONDO:0005061 biolink:NamedThing lung adenocarcinoma A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. mondoexuq1wtf nonsmall cell adenocarcinoma|adenocarcinoma of lung|adenocarcinoma of the lung|bronchogenic lung adenocarcinoma|non-small cell lung adenocarcinoma|lung adenocarcinoma MESH:C538231|UMLS:C0152013|EFO:0000571|GARD:0005742|NCIT:C3512|EFO:0005288|DOID:3910|ONCOTREE:LUAD|SCTID:254626006 https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma owl:Class MONDO:0000341 biolink:NamedThing paralytic poliomyelitis A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. mondoexuq1wtf DOID:0050515 owl:Class MONDO:0017373 biolink:NamedThing poliomyelitis An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. mondoexuq1wtf Polia|polio|acute poliomyelitis|infantile paralysis|poliomyelitis EFO:0007450|COHD:378679|MESH:D011051|SCTID:398102009|ICD10:A80.9|ICD9:045.90|ICD10:A80.3|ICD9:045|ICD10:A80.4|MedDRA:10036012|NCIT:C35550|UMLS:C0032371|ICD10:A80|GARD:0007413|DOID:4953|ICD9:045.9|ICD9:045.92|ICD10:A80.1|ICD10:A80.0|Orphanet:2912|ICD10:A80.2 owl:Class MONDO:0002457 biolink:NamedThing Treacher-Collins syndrome Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. mondoexuq1wtf Treacher Collins syndrome|TCOF|mandibulofacial dysostosis without limb anomalies|MFD1|Franceschetti syndrome|Franceschetti-Klein syndrome|TCS Orphanet:861|OMIMPS:154500|NCIT:C75018|ICD10:Q75.4|MedDRA:10051456|GARD:0009124|UMLS:C0265241|DOID:2908|SCTID:62767009 owl:Class MONDO:0020158 biolink:NamedThing eyelids malposition disorder mondoexuq1wtf Orphanet:98567|UMLS:CN227803 owl:Class MONDO:0007276 biolink:NamedThing cat-eye syndrome Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. mondoexuq1wtf chromosome 22 partial tetrasomy|Inv dup(22)(q11)|CES|CAT eye syndrome|Schmid-Fraccaro syndrome GARD:0000026|ICD10:Q92.8|UMLS:C0265493|NCIT:C75477|SCTID:26445008|MESH:C535918|OMIM:115470|Orphanet:195 https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome owl:Class MONDO:0015620 biolink:NamedThing syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. mondoexuq1wtf syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation Orphanet:165707|UMLS:CN226715 owl:Class MONDO:0002354 biolink:NamedThing benign laryngeal neoplasm A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma. mondoexuq1wtf benign larynx tumor|larynx neoplasm|benign laryngeal tumor|laryngeal benign neoplasm|benign larynx neoplasm|laryngeal neoplasm, benign|benign tumor of the larynx|larynx benign neoplasm|benign neoplasm of larynx|benign laryngeal neoplasm|benign neoplasm of the larynx|benign tumor of larynx|laryngeal tumor SCTID:92175003|NCIT:C3601|COHD:23731|UMLS:C0153952|DOID:2598|ICD9:212.1 owl:Class MONDO:0021071 biolink:NamedThing laryngeal neoplasm A benign or malignant neoplasm involving the larynx. mondoexuq1wtf laryngeal neoplasm|neoplasm of larynx|laryngeal tumor|tumor of larynx|larynx neoplasm|larynx tumor|neoplasm of the larynx|larynx neoplasm (disease)|tumor of the larynx UMLS:C0023055|MESH:D007822|EFO:0003817|SCTID:126692004|NCIT:C3156 owl:Class MONDO:0014636 biolink:NamedThing combined oxidative phosphorylation defect type 25 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. mondoexuq1wtf COXPD25|combined oxidative phosphorylation deficiency type 25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 25|combined oxidative phosphorylation deficiency caused by mutation in MARS2 OMIM:616430|UMLS:C4225329|EFO:0009035|Orphanet:447954|ICD10:E88.8|DOID:0111468 owl:Class MONDO:0000732 biolink:NamedThing combined oxidative phosphorylation deficiency A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. mondoexuq1wtf OMIMPS:609060|DOID:0060286|GARD:0012893 https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency owl:Class MONDO:0009759 biolink:NamedThing mosaic variegated aneuploidy syndrome 1 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. mondoexuq1wtf mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|mosaic variegated aneuploidy syndrome 1|MVA1|MOSAIC variegated aneuploidy syndrome 1|BUB1B mosaic variegated aneuploidy syndrome|Mosaic variegated aneuploidy syndrome type 1|MVA syndrome|mosaic variegated aneuploidy syndrome type 1 UMLS:CN031748|OMIM:257300|DOID:0080141 owl:Class MONDO:0000141 biolink:NamedThing mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. mondoexuq1wtf MVA1|Warburton-Anyane-Yeboa syndrome|Mosaic variegated aneuploidy syndrome 1 UMLS:C1850343|ICD9:758.89|Orphanet:1052|OMIMPS:257300|ICD10:Q99.8|DC:0000564|MESH:C536987|SCTID:700056005|NCIT:C128192|GARD:0003007 owl:Class MONDO:0017420 biolink:NamedThing intercalary limb defects mondoexuq1wtf intercalary meromelia Orphanet:294927 owl:Class MONDO:0019713 biolink:NamedThing non-syndromic limb reduction defect mondoexuq1wtf isolated limb reduction defect|non-syndromic limb hypoplasia|nonsyndromic limb reduction defect ICD10:Q73.1|ICD10:Q72.0|ICD10:Q71.6|ICD10:Q71.0|ICD10:Q72.5|ICD10:Q71.8|Orphanet:93457|ICD10:Q72.3|ICD10:Q71.4|ICD10:Q72.1|ICD10:Q73.0|ICD10:Q72.9|ICD10:Q71.5|ICD10:Q72.4|ICD10:Q72.2|ICD10:Q71.3|ICD10:Q71.9|ICD10:Q71.2|ICD10:Q72.6|ICD10:Q72.7|ICD10:Q73.8|ICD10:Q71.1|ICD10:Q72.8 owl:Class MONDO:0001298 biolink:NamedThing congenital mitral valve insufficiency Dysfunction of the mitral valve characterized by incomplete valve closure. mondoexuq1wtf congenital mitral regurgitation|congenital mitral insufficiency|mitral regurgitation|mitral valve incompetence|mitral insufficiency|congenital insufficiency of mitral valve|insufficiency, mitral|mitral valve insufficiency ICD9:746.6|DOID:11502|MESH:D008944|ICD10:Q23.3|NCIT:C50888|SCTID:29928006|ICD9:396.3|UMLS:C0158619 owl:Class MONDO:0020674 biolink:NamedThing vascular insufficiency disorder mondoexuq1wtf vascular insufficiency SCTID:86341008 owl:Class MONDO:0002295 biolink:NamedThing skin glomus tumor A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. mondoexuq1wtf glomus skin neoplasm|skin glomus neoplasm|glomus tumor of skin|glomus skin tumor|glomus neoplasm of skin|glomus tumor of the skin|zone of skin glomus tumor|glomus neoplasm of the skin UMLS:C0346083|NCIT:C4491|DOID:2430|SCTID:254795008 owl:Class MONDO:0018327 biolink:NamedThing glomus tumor A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. mondoexuq1wtf glomus neoplasm|glomus tumor|glomus tumour ICDO:8711/0|NCIT:C3060|ICD9:239.7|MESH:D005918|Orphanet:391651|DOID:2431|ICD10:D18.0|SCTID:403969002|UMLS:C0017653 owl:Class MONDO:0021530 biolink:NamedThing benign neoplasm of subglottis A benign neoplasm that involves the subglottis. mondoexuq1wtf benign neoplasm of the subglottis|benign tumor of subglottis|benign subglottis neoplasm|benign subglottis tumor|benign subglottic tumor|subglottis benign neoplasm|benign tumor of the subglottis|benign subglottic neoplasm NCIT:C4427|SCTID:92412003|UMLS:C0345749 owl:Class MONDO:0000933 biolink:NamedThing subglottis neoplasm A benign or malignant neoplasm that affects the subglottic area of the larynx. mondoexuq1wtf subglottis neoplasm (disease)|subglottis neoplasm|tumor of subglottis|tumor of the subglottis|subglottis tumor|neoplasm of the subglottis|subglottic neoplasm|subglottic tumor|neoplasm of subglottis NCIT:C4426|SCTID:126696001|UMLS:C0345746|DOID:10069 owl:Class MONDO:0005412 biolink:NamedThing duodenal ulcer An ulcer in the duodenal wall. mondoexuq1wtf curling Ulcer|duodenal ulcer|duodenal ulcer (disease)|stress Ulcer|curling's ulcers duodenal ulcer (disease) MESH:D004381|ICD10:K26|DOID:1724|SCTID:39755000|ICD9:532|HP:0002588|EFO:0004607|NCIT:C26755 owl:Class MONDO:0002866 biolink:NamedThing duodenal disease Pathological conditions in the duodenum region of the small intestine (intestine, small). mondoexuq1wtf disorder of duodenum|disease of duodenum|duodenum disorder|duodenum disease|disease or disorder of duodenum|duodenum disease or disorder UMLS:C0013289|DOID:4072|ICD9:537.89|ICD9:537.9|SCTID:52182008|MESH:D004378 owl:Class MONDO:0012646 biolink:NamedThing glaucoma 1, open angle, H mondoexuq1wtf GLC1H|glaucoma 1, open angle, H UMLS:C1969811|MESH:C566976|OMIM:611276 owl:Class MONDO:0005338 biolink:NamedThing open-angle glaucoma Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. mondoexuq1wtf wide-angle glaucoma|pigmentary glaucoma|open angle glaucoma|glaucoma simplex UMLS:C0017612|SCTID:84494001|ICD9:365.13|SCTID:46168003|MESH:D005902|ICD10:H40.10|ICD10:H40.13|NCIT:C34641|EFO:0004190|ICD9:365.10|ICD9:365.1|DOID:1067|COHD:441284|ICD10:H40.1 owl:Class MONDO:0013900 biolink:NamedThing alternating hemiplegia of childhood 2 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. mondoexuq1wtf alternating hemiplegia of childhood type 2|alternating hemiplegia of childhood 2|ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3|AHC2 UMLS:C3553788|OMIM:614820 owl:Class MONDO:0016241 biolink:NamedThing alternating hemiplegia of childhood Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. mondoexuq1wtf childhood alternating hemiplegia|alternating hemiplegia|AHC|congenital adrenal Hypoplasia|alternating hemiplegia of childhood|pediatric alternating hemiplegia|congenital adrenal gland hypoplasia|alternating hemiplegia syndrome|adrenal hypoplasia congenita GARD:0000011|OMIMPS:104290|DOID:0050635|UMLS:C0338488|ICD10:G98|MESH:C536589|SCTID:230466004|Orphanet:2131|NCIT:C35261 owl:Class MONDO:0030720 biolink:NamedThing trichomonal vulvovaginitis An vulvovaginitis caused by infection with Trichomonas vaginalis. mondoexuq1wtf leukorrhea vaginalis - trichomonal|trichomonal leukorrhea|Trichomonas vaginalis caused vulvovaginitis|trichomonal vulvovaginitis|Trichomonas vaginalis vulvovaginitis SCTID:81598001|UMLS:C2945558|ICD9:131.01 owl:Class MONDO:0007019 biolink:NamedThing vulvovaginitis An inflammatory pathologic process that affects the vulva and the vagina. mondoexuq1wtf Vulvo-vaginitis EFO:1001240|DOID:2273|MedDRA:10047794|MESH:D014848|NCIT:C35131|ICD10:N76.0|SCTID:53277000|COHD:4180978|UMLS:C0042998 owl:Class MONDO:0013988 biolink:NamedThing congenital heart defects, multiple types, 3 mondoexuq1wtf CHTD3|congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|congenital heart defects, multiple types, 3 UMLS:C3554194|OMIM:614954 owl:Class MONDO:0018356 biolink:NamedThing secondary neonatal autoimmune disease mondoexuq1wtf Transplacentally acquired neonatal autoimmune disease UMLS:CN226097|Orphanet:398091 owl:Class MONDO:0015939 biolink:NamedThing systemic autoimmune disease An autoimmune form of systemic disease. mondoexuq1wtf autoimmune systemic disease Orphanet:182228|UMLS:CN200529 owl:Class MONDO:0007191 biolink:NamedThing Behcet disease Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. mondoexuq1wtf Behçet’s disease|Behcet syndrome|Behcet's disease|Behçet's disease|Morbus Behçet's syndrome|Behçet syndrome|silk road disease|Behçet's syndrome|Behçet-Adamantiades syndrome|Adamantiades-Behcet disease|triple symptom complex|Behet's syndrome|Behcet's syndrome|Behçet disease|BD|Bechet syndrome|Behcet disease ICD9:136.1|MESH:D001528|OMIM:109650|EFO:0003780|DOID:13241|UMLS:C0004943|MedDRA:10004213|Orphanet:117|COHD:436642|GARD:0000848|NCIT:C34416|ICD10:M35.2|SCTID:310701003 owl:Class MONDO:0017957 biolink:NamedThing unclassified autoinflammatory syndrome mondoexuq1wtf UMLS:CN204103|Orphanet:324936 owl:Class MONDO:0007852 biolink:NamedThing palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. mondoexuq1wtf palmoplantar hyperkeratosis-deafness syndrome|hereditary palmoplantar keratoderma with deafness (subtype)|PPK-deafness syndrome|focal palmoplantar keratoderma with sensorineural deafness (subtype)|palmoplantar keratoderma-hearing loss syndrome|palmoplantar keratoderma and sensorineural deafness|keratoderma palmoplantar deafness|palmoplantar hyperkeratosis-hearing loss syndrome|keratoderma palmoplantar, with deafness|keratoderma, palmoplantar, with deafness|diffuse palmoplantar keratoderma with deafness (subtype) Orphanet:2202|GARD:0003094|OMIM:148350|UMLS:C1835672|MESH:C536152|ICD10:Q82.8|DOID:0111505 owl:Class MONDO:0018787 biolink:NamedThing genetic cerebral small vessel disease mondoexuq1wtf UMLS:CN776941|Orphanet:477754 owl:Class MONDO:0015953 biolink:NamedThing genetic central nervous system and retinal vascular disease mondoexuq1wtf UMLS:CN200550|Orphanet:183503 owl:Class MONDO:0003273 biolink:NamedThing sternum cancer A malignant neoplasm involving the sternum mondoexuq1wtf malignant sternum neoplasm|malignant sternal neoplasm|malignant tumor of sternum|cancer of sternum|sternum cancer|malignant tumor of the sternum|malignant neoplasm of the sternum|malignant neoplasm of sternum|malignant sternal tumor|neoplasm of sternum DOID:5090|UMLS:C1382025|NCIT:C8408 owl:Class MONDO:0002129 biolink:NamedThing bone cancer A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. mondoexuq1wtf malignant bone tumour|malignant osseous tumor|malignant bone tumor|malignant tumor of bone|bone cancer|malignant bone neoplasm|cancer of bone|malignant osseous neoplasm|malignant skeletal element neoplasm|cancer of the bone|CA - bone cancer|bone neoplasm|malignant neoplasm of skeletal element|malignant neoplasm of the bone|bone tumour|skeletal element cancer|cancer of skeletal element|osseous cancer|malignant tumor of the bone|osseous tumor|malignant neoplasm of bone COHD:443564|ICD9:170.9|NCIT:C4016|SCTID:428281000|MESH:D001859|CSP:2019-1041|DOID:184 owl:Class MONDO:0021257 biolink:NamedThing glomus jugulare neoplasm A neoplasm (disease) that involves the jugular body. mondoexuq1wtf jugular body tumor|tumor of jugular body|neoplasm of jugular body|jugular body neoplasm|jugular body neoplasm (disease) Editor note: consider merging with jugulotympanic paraganglioma owl:Class MONDO:0021351 biolink:NamedThing neoplasm of neck A neoplasm (disease) that involves the neck. mondoexuq1wtf neck neoplasm|neoplasm of neck|tumor of neck|neck neoplasm (disease)|tumor of the neck|neck neoplasms (Including All pharyngeal related neoplasms)|neck tumor|neoplasm of the neck SCTID:126635000|NCIT:C3260|ICD9:239.89|UMLS:C0027533 owl:Class MONDO:0013249 biolink:NamedThing autosomal recessive nonsyndromic deafness 84A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. mondoexuq1wtf PTPRQ autosomal recessive nonsyndromic deafness|autosomal recessive deafness 84A with vestibular dysfunction|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A|autosomal recessive nonsyndromic deafness type 84A|DFNB84A|deafness, autosomal recessive 84|deafness, autosomal recessive 84A, with vestibular dysfunction|deafness, autosomal recessive 84A|autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ OMIM:613391|ICD10:H90.3|UMLS:C3150654|DOID:0110529 owl:Class MONDO:0019588 biolink:NamedThing deafness, autosomal recessive Autosomal recessive form of nonsyndromic deafness. mondoexuq1wtf autosomal recessive isolated sensorineural deafness type DFNB|nonsyndromic deafness, autosomal recessive|autosomal recessive isolated neurosensory deafness type DFNB|autosomal recessive non-syndromic sensorineural deafness type DFNB|deafness, autosomal recessive|autosomal recessive nonsyndromic deafness|autosomal recessive non-syndromic neurosensory deafness type DFNB|nonsyndromic genetic deafness, autosomal recessive|deafness, neurosensory nonsyndromic recessive, DFN|autosomal recessive nonsyndromic genetic deafness MESH:C564609|OMIM:607197|UMLS:C1846647|UMLS:CN206424|DC:0000110|DOID:0050565|Orphanet:90636|ICD10:H90.3|OMIMPS:220290|GARD:0001710 owl:Class MONDO:0014613 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene. mondoexuq1wtf pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related|PFBMFT3 OMIM:616373|UMLS:C4225346 owl:Class MONDO:0000148 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related mondoexuq1wtf See genetic heterogeneity of OMIM 614742. UMLS:CN262497|DC:0000590|OMIMPS:614742 owl:Class MONDO:0016396 biolink:NamedThing pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. mondoexuq1wtf Norman disease|PCH1|mental retardation, autosomal recessive 32|MRT32 UMLS:C1843504|ICD10:Q04.3|Orphanet:2254|MESH:C548069|GARD:0010704|SCTID:718610008|OMIM:614339 owl:Class MONDO:0020135 biolink:NamedThing pontocerebellar hypoplasia Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. mondoexuq1wtf nonsyndromic pontocerebellar hypoplasia|pontoneocerebllar hypoplasia|PCH|pontocerebellar hypoplasia|pontoneocerebellar atrophy|isolated pontocerebellar hypoplasia DOID:0060264|Orphanet:98523|UMLS:CN924922|OMIMPS:607596|ICD10:Q04.3|SCTID:45163000|MESH:C580383|GARD:0010977 https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia owl:Class MONDO:0017386 biolink:NamedThing pleomorphic rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. mondoexuq1wtf anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type DOID:3250|Orphanet:293199|ICD10:C49.9|SCTID:404054005|ONCOTREE:PLRMS|NCIT:C4258|UMLS:C0334480|ICD9:171.9 owl:Class MONDO:0005212 biolink:NamedThing rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. mondoexuq1wtf rhabdomyosarcoma|rhabdomyosarcoma, malignant|rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) ICD10:C49.9|MedDRA:10039022|NCIT:C3359|ICD9:171.9|DOID:3247|SCTID:302847003|ONCOTREE:RMS|UMLS:C0035412|EFO:0002918|Orphanet:780|HP:0002859|ICDO:8900/3|MESH:D012208 owl:Class MONDO:0012948 biolink:NamedThing chromosome 6pter-p24 deletion syndrome Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. mondoexuq1wtf distal monosomy 6p|monosomy 6p25|distal monosomy type 6p|chromosome 6pter-p24 deletion syndrome|distal deletion 6p|6p25 microdeletion syndrome|6p subtelomeric deletion syndrome DOID:0060422|SCTID:718688008|OMIM:612582|MESH:C567239|Orphanet:96125|UMLS:C4305276|UMLS:C2675486|ICD10:Q93.5 owl:Class MONDO:0016888 biolink:NamedThing partial deletion of the short arm of chromosome 6 mondoexuq1wtf partial monosomy of chromosome 6p|partial monosomy of the short arm of chromosome 6|partial deletion of chromosome 6p|partial deletion of the short arm of chromosome type 6 ICD10:Q93.5|Orphanet:261902 owl:Class MONDO:0011803 biolink:NamedThing hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. mondoexuq1wtf spastic paraplegia 7, autosomal recessive|spastic paraplegia 7|hereditary spastic paraplegia type 7|hereditary spastic paraplegia paraplegin type|spastic paraplegia type 7|SPG7|autosomal recessive spastic paraplegia 7|SPG7 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in SPG7 Orphanet:99013|ICD10:G11.4|UMLS:C3711370|GARD:0004927|SCTID:715776003|MESH:C564599|OMIM:607259|DOID:0110816|UMLS:C1846564 owl:Class MONDO:0011022 biolink:NamedThing Potocki-Shaffer syndrome Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). mondoexuq1wtf PSS|Potocki-Shaffer syndrome|chromosome 11P11.2 deletion syndrome|proximal 11p deletion syndrome|proximal 11P deletion syndrome|11p11.2 deletion|deletion of chromosome 11p11.2|Defect11 syndrome ICD10:Q93.5|MESH:C538356|OMIM:601224|DOID:0111687|GARD:0009762|ICD9:758.39|SCTID:702346005|Orphanet:52022|NCIT:C75456|UMLS:C1832588 owl:Class MONDO:0016893 biolink:NamedThing partial deletion of the short arm of chromosome 11 mondoexuq1wtf partial deletion of the short arm of chromosome type 11|partial monosomy of the short arm of chromosome 11|partial monosomy of chromosome 11p|partial deletion of chromosome 11p ICD10:Q93.5|Orphanet:261947 owl:Class MONDO:0005787 biolink:NamedThing hepatic tuberculosis Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. mondoexuq1wtf tuberculosis of liver DOID:407|MESH:D014386|ICD9:017.90|UMLS:C0041313|EFO:0007302|SCTID:186273003 owl:Class MONDO:0005768 biolink:NamedThing gastrointestinal tuberculosis Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. mondoexuq1wtf tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of intestines, peritoneum, and mesenteric glands DOID:404|ICD9:014.80|EFO:0007280|UMLS:C0152717|ICD9:014.81|UMLS:C0041312|MESH:D014385|SCTID:186225008|ICD9:014.86|COHD:196019 owl:Class MONDO:0021240 biolink:NamedThing tongue neoplasm A neoplasm (disease) that involves the tongue. mondoexuq1wtf tongue neoplasm (disease)|tongue tumor|neoplasm of the tongue|tumor of tongue|neoplasm of tongue|tumor of the tongue EFO:0003871|NCIT:C3416|SCTID:126778001 owl:Class MONDO:0005586 biolink:NamedThing head and neck neoplasm A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. mondoexuq1wtf craniocervical region neoplasm|craniocervical region neoplasm (disease)|head and neck neoplasm (excluding central nervous system)|tumor of head and neck|neoplasm of head and neck|tumor of the head and neck|head and neck tumor|neoplasm of the head and neck|head and neck neoplasm|tumor of craniocervical region|neoplasm of craniocervical region|craniocervical region tumor UMLS:C0018671|ONCOTREE:HEADNECK|SCTID:255055008|NCIT:C3077|EFO:0005950|ICD9:239.89 owl:Class MONDO:0006052 biolink:NamedThing pulmonary tuberculosis A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. mondoexuq1wtf lung tuberculosis|pulmonary TB|lung TB MESH:D014397|ICD9:011.86|ICD9:011.90|ICD9:011.84|UMLS:C0041327|SCTID:154283005|DOID:2957|ICD10:A15|COHD:253954|NCIT:C26899|ICD9:011|ICD9:011.96|ICD9:011.80|ICD9:011.16|ICD9:011.9|ICD9:011.92|ICD9:011.81|EFO:1000049|ICD9:011.85|ICD10:A15.0 owl:Class MONDO:0019234 biolink:NamedThing peroxisome biogenesis disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). mondoexuq1wtf peroxisomal biogenesis disorders|Zellweger spectrum disorder|PBD-Zellweger spectrum disorder|Zellweger spectrum|peroxisomal biogenesis disorders, Zellweger syndrome spectrum|Zellweger syndrome spectrum|disorders of peroxisome biogenesis|peroxisome biogenesis disorder|cerebrohepatorenal syndrome|peroxisome biogenesis disorder spectrum|PBD-ZSD|peroxisome biogenesis disorder-Zellweger syndrome spectrum|ZSD|PBD-ZSS|peroxisome biogenesis disorders, Zellweger syndrome spectrum|Zellweger spectrum disorders|PBD, ZSS MESH:C531857|DOID:0080377|NCIT:C146639|MESH:C536664|OMIMPS:214100|GARD:0011890|SCTID:742876007|GARD:0009473|Orphanet:79189 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0008576 biolink:NamedThing toe, fifth, number of phalanges 1N mondoexuq1wtf toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN OMIM:189000 owl:Class MONDO:0013222 biolink:NamedThing Miyoshi muscular dystrophy 3 mondoexuq1wtf distal anoctaminopathy|Miyoshi muscular dystrophy type 3|MMD3|Miyoshi muscular dystrophy 3|Miyoshi myopathy 3 ICD10:G71.0|UMLS:C2750076|OMIM:613319|DOID:0070201|MESH:C567645|Orphanet:399096 owl:Class MONDO:0009685 biolink:NamedThing Miyoshi myopathy Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. mondoexuq1wtf Miyoshi muscular dystrophy type 1|Miyoshi distal myopathy|Miyoshi muscular dystrophy|MMD1|Miyoshi muscular dystrophy 1|MM|muscular dystrophy, distal, late onset, autosomal recessive Editor note: consider splitting out type 1 OMIMPS:254130|NCIT:C118846|DOID:0070198|MESH:C537480|Orphanet:45448|ICD10:G71.0|GARD:0009676 https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy owl:Class MONDO:0019283 biolink:NamedThing nail anomaly A epidermal appendage anomaly that involves the nail. mondoexuq1wtf epidermal appendage anomaly of nail|nail epidermal appendage anomaly Orphanet:79368|MedDRA:10028684 owl:Class MONDO:0002884 biolink:NamedThing nail disease A disease involving the nail. mondoexuq1wtf disease of nail|disorder of nail|nail disease or disorder|disease or disorder of nail|nail disease ICD10:L60.9|DOID:4123|ICD9:703|ICD9:703.9|ICD9:703.8|MESH:D009260|UMLS:C0027339|SCTID:17790008|ICD10:L60 owl:Class MONDO:0012000 biolink:NamedThing specific phobia An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. mondoexuq1wtf phobia, specific|simple phobia|phobia, simple SCTID:54587008|EFO:1001918|DOID:599|ICD10:F40.2|ICD9:300.29|NCIT:C35284|MESH:C562465|OMIM:608251 owl:Class MONDO:0003699 biolink:NamedThing phobic disorder An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. mondoexuq1wtf phobia ICD9:300.20|COHD:4304010|DOID:591|EFO:1001908|ICD10:F40|NCIT:C35420|ICD10:F40.9|ICD9:300.2|MESH:D010698|SCTID:386810004 owl:Class MONDO:0011457 biolink:NamedThing ataxia-telangiectasia-like disorder An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. mondoexuq1wtf ataxia-telangiectasia-like disorder 1|ataxia - telangiectasia-like disorder|ATLD|ATLD1|ataxia-telangiectasia-like disorder type 1 ICD10:G11.3|DC:0000668|ICD9:334.8|MESH:C565779|UMLS:CN239583|OMIMPS:604391|SCTID:700058006 owl:Class MONDO:0015945 biolink:NamedThing polymalformative genetic syndrome with increased risk of developing cancer Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. mondoexuq1wtf PGSIRC Orphanet:183422|UMLS:CN200541 owl:Class MONDO:0018280 biolink:NamedThing muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts. mondoexuq1wtf MEB disease with bilateral multicystic leucodystrophy Orphanet:370997|ICD10:G71.2 owl:Class MONDO:0018132 biolink:NamedThing congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. mondoexuq1wtf lissencephaly type 2 with muscular and ocular involvement|MDDGA DOID:0111229|GARD:0012588|Orphanet:352687 https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies owl:Class MONDO:0004540 biolink:NamedThing epithelioid malignant peripheral nerve sheath tumor A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. mondoexuq1wtf malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|epithelioid malignant peripheral nerve sheath tumor|epithelioid MPNST|malignant epithelioid tumor of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm NCIT:C6561|DOID:8353|SCTID:404038007|EFO:1000245|UMLS:C1321427 owl:Class MONDO:0017827 biolink:NamedThing malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. mondoexuq1wtf malignant neoplasm of peripheral nerve sheath|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant peripheral nerve sheath tumour|malignant peripheral nerve sheath tumor|Malig. periph. nerve sheath tum.|malignant neurilemmoma|malignant neurofibroma|neurofibrosarcoma|malignant peripheral nerve sheath neoplasm|malignant schwannoma|malignant neoplasm of the peripheral nerve sheath|malignant tumor of the peripheral nerve sheath|malignant neurilemoma|MPNST|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant tumor of peripheral nerve sheath|neurogenic sarcoma|neurofibrosarcoma, malignant|schwannoma, malignant ICD10:C47.9|SCTID:404037002|MedDRA:10029236|Orphanet:3148|UMLS:C0751690|NCIT:C3798|ICD9:171.9|DOID:5940|ICDO:9560/3|GARD:0010872|ICDO:9540/3|ONCOTREE:MPNST owl:Class MONDO:0012635 biolink:NamedThing COG8-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. mondoexuq1wtf congenital disorder of glycosylation type 2h|CDG syndrome type IIh|congenital disorder of glycosylation, type IIh|CDG IIh|CDG2H|carbohydrate deficient glycoprotein syndrome type IIh|COG8-CDG (CDG-IIh)|CDG-IIh|congenital disorder of glycosylation type IIh MESH:C566987|Orphanet:95428|SCTID:717774004|OMIM:611182|ICD10:E77.8|DOID:0070260|UMLS:C1970021|GARD:0012411 owl:Class MONDO:0017750 biolink:NamedThing defect in conserved oligomeric Golgi complex mondoexuq1wtf defect in COG complex Orphanet:309568|ICD10:E77.8 owl:Class MONDO:0019594 biolink:NamedThing 46,XY disorder of sex development due to a testosterone synthesis defect mondoexuq1wtf 46,XY DSD due to a testosterone synthesis defect UMLS:CN227656|Orphanet:90783 owl:Class MONDO:0017970 biolink:NamedThing 46,XY disorder of sex development due to impaired androgen production mondoexuq1wtf 46,XY DSD due to impaired androgen production UMLS:CN227233|Orphanet:325357 owl:Class MONDO:0023161 biolink:NamedThing viral myocarditis Myocarditis that is caused by an infection with a viral agent. mondoexuq1wtf Viral Myocarditis|Viral myocarditis|viral myocarditis NCIT:C128381|SCTID:89141000|UMLS:C0276138 owl:Class MONDO:0100329 biolink:NamedThing primary viral infectious disease The initial viral infectious disase that causes illness. mondoexuq1wtf http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0011513 biolink:NamedThing Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology mondoexuq1wtf Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology MESH:C565728|OMIM:605055|UMLS:C1857933 owl:Class MONDO:0015140 biolink:NamedThing early-onset autosomal dominant Alzheimer disease Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. mondoexuq1wtf early-onset familial autosomal dominant Alzheimer disease|early-onset, autosomal dominant Alzheimer disease|EOFAD GARD:0012798|Orphanet:1020|ICD10:G30.0|UMLS:CN043596 owl:Class MONDO:0021461 biolink:NamedThing benign neoplasm of hypopharynx A benign neoplasm that involves the hypopharynx. mondoexuq1wtf benign hypopharyngeal neoplasm|hypopharynx benign neoplasm|benign tumor of hypopharynx|benign neoplasm of the hypopharynx|benign hypopharyngeal tumor|hypopharyngeal neoplasm, benign|benign tumor of the hypopharynx NCIT:C3596|ICD10:D10.7|SCTID:92139000|UMLS:C0153939|ICD9:210.8 owl:Class MONDO:0021523 biolink:NamedThing benign neoplasm of pharynx A benign neoplasm that involves the pharynx. mondoexuq1wtf benign tumor of the pharynx|pharyngeal neoplasm benign|benign pharyngeal tumor|benign tumor of pharynx|benign pharynx neoplasm|benign pharyngeal neoplasm|benign neoplasm of the pharynx|benign pharynx tumor|pharynx benign neoplasm ICD9:210.9|UMLS:C0153940|NCIT:C3597|SCTID:92293007 owl:Class MONDO:0056797 biolink:NamedThing neurodevelopmental disorder with midbrain and hindbrain malformations mondoexuq1wtf NEDMHM|neurodevelopmental disorder with midbrain and hindbrain malformations UMLS:C4479613|OMIM:617523|DOID:0080312 owl:Class MONDO:0007075 biolink:NamedThing alacrima, congenital, autosomal dominant mondoexuq1wtf alacrima, congenital|alacrimia congenita, autosomal dominant|alacrimia congenita MESH:C566307|OMIM:103420 owl:Class MONDO:0019627 biolink:NamedThing isolated congenital alacrima Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. mondoexuq1wtf nonsyndromic congenital alacrima Orphanet:91416|ICD10:Q10.6|UMLS:C4273963|SCTID:717262004 owl:Class MONDO:0011514 biolink:NamedThing tricuspid atresia Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). mondoexuq1wtf tricuspid atresia|tricuspid valve atresia|congenital atresia of tricuspid valve|tricuspid atresia (disease)|congenital agenesis of the tricuspid valve tricuspid atresia (disease) MedDRA:10049767|ICD10:Q22.4|GARD:0005274|DOID:0080169|Orphanet:1209|OMIM:605067|NCIT:C85202|HP:0011662|MESH:D018785|SCTID:63042009|UMLS:C0243002 owl:Class MONDO:0100399 biolink:NamedThing acute myeloid leukemia, t(3;3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) mondoexuq1wtf AML, t(3;3)(q21;q26.2)|AML, t(3;3)(q21.3;q26.2)|AML, t(3;3)(q21.3q26.2)|AML, t(3;3)(q26;q21) NCIT:C122717 owl:Class MONDO:0018874 biolink:NamedThing acute myeloid leukemia Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. mondoexuq1wtf acute myelogenous leukemias|leukemia, myelocytic, acute|myeloid leukemia, acute|acute granulocytic leukemia|acute Nonlymphocytic leukemia|leukemia, acute myeloid, susceptibility to|acute myeloblastic leukemia|AML - acute myeloid leukemia|acute non lymphoblastic leukemia|acute myelogenous leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|acute myelocytic leukemia|leukemia, acute myelogenous|acute myeloid leukemia|ANLL|acute nonlymphocytic leukemia|AML|acute myeloid leukemia (AML)|leukemia, acute myeloid NCIT:C3171|Orphanet:519|MedDRA:10000880|ICDO:9861/3|ICD10:C92.0|ICD10:C92.00|ICD9:205.00|GARD:0000537|DOID:9119|OMIM:601626|UMLS:C0023467|SCTID:91861009|ICD9:205.0|KEGG:05221|GARD:0012757|ONCOTREE:AML|EFO:0000222|MESH:D015470 https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia|https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia owl:Class MONDO:0700075 biolink:NamedThing congenital muscular dystrophy caused by varation in POMGNT2 Any congenital muscular dystrophy in which the cause of the disease is a varation in the POMGNT2 gene. mondoexuq1wtf congenital muscular dystrophy caused by mutation in POMGNT2|congenital muscular dystrophy-POMGNT2 related http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0700069 biolink:NamedThing myopathy caused by varation in POMGNT2 Any myopathy in which the cause of the disease is a varation in the POMGNT2 gene. mondoexuq1wtf POMGNT2 myopathy|myopathy caused by mutation in POMGNT2|POMGNT2-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0006827 biolink:NamedThing lateral medullary syndrome A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. mondoexuq1wtf Wallenberg syndrome|Wallenberg's syndrome|Vertebral artery syndrome|Lateral medullary syndrome|Posterior inferior cerebellar artery syndrome|PICA syndrome UMLS:C0043019|DOID:3522|NCIT:C84807|ICD10:G46.3|EFO:1001011|SCTID:78569004|MESH:D014854|GARD:0009263|MedDRA:10024033|ICD9:437.1 owl:Class MONDO:0009479 biolink:NamedThing Johanson-Blizzard syndrome Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. mondoexuq1wtf nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|Johanson-Blizzard syndrome|JBS|Johanson-BLIZZARD syndrome|pancreatic insufficiency, combined exocrine EFO:0001063|MESH:C535880|UMLS:C1850081|MESH:C564907|OMIM:260450|DOID:14694|SCTID:75979009|Orphanet:2315|GARD:0000080|ICD10:Q87.8|UMLS:C0175692|OMIM:243800|ICD9:759.89 owl:Class MONDO:0007738 biolink:NamedThing spondyloepiphyseal dysplasia with congenital joint dislocations CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. mondoexuq1wtf spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dislocations|spondyloepiphyseal dysplasia, Omani type|bifurcation of distal humerus with oligoectro-syndactyly|Humerospinal dysostosis|CHST3-related skeletal dysplasia|chondrodysplasia with multiple dislocations|spondyloepiphyseal dysplasia with congenital JOINT dislocations|chondrodysplasia with congenital joint dislocations, CHST3 type|SDCD, CHST3 type|Omani type|humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer tink syndrome|spondyloepiphyseal dysplasia|SEDCJD|Gollop Coates syndrome MESH:C537283|GARD:0002533|OMIM:143095|DOID:0050813|Orphanet:263463|SCTID:702400006|ICD9:756.9|ICD10:Q74.8 https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome owl:Class MONDO:0018292 biolink:NamedThing congenital disorder of glycosylation-related bone disorder mondoexuq1wtf CDG-related bone disorder ICD10:E77.8|Orphanet:371195 owl:Class MONDO:0010617 biolink:NamedThing male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. mondoexuq1wtf Sohval-Soffer syndrome|hypogonadism, MALE, with intellectual disability and skeletal anomalies|hypogonadism, MALE, with mental retardation and skeletal anomalies MESH:C564406|ICD10:Q87.8|SCTID:722459008|Orphanet:2234|OMIM:307500 owl:Class MONDO:0005618 biolink:NamedThing anxiety disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. mondoexuq1wtf anxiety disorder|anxiety state|anxiety ICD9:300.09|ICD10:F41.9|SCTID:197480006|COHD:442077|NCIT:C2878|DOID:2030|MESH:D001008|EFO:0006788 owl:Class MONDO:0005084 biolink:NamedThing mental disorder A disease that has its basis in the disruption of mental process. mondoexuq1wtf mental process disease|disorder of mental process|mental or behavioural disorder EFO:0000677|ICD10:F00.F99|ICD9:298.8|UMLS:CN240636|NIFSTD:birnlex_12669|SCTID:74732009|ICD9:V11.9|ICD9:290-299.99 owl:Class MONDO:0013531 biolink:NamedThing PSPH deficiency 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. mondoexuq1wtf 3-phosphoserine phosphatase deficiency|PSPHD|phosphoserine phosphatase deficiency OMIM:614023|SCTID:124432005|ICD10:E72.8|Orphanet:79350|UMLS:C1291463|DOID:0050724|ICD9:277.6 owl:Class MONDO:0018162 biolink:NamedThing neurometabolic disorder due to serine deficiency Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. mondoexuq1wtf serine deficiency UMLS:CN227274|ICD10:E72.8|Orphanet:35705 owl:Class MONDO:0003929 biolink:NamedThing vestibular micropapillomatosis A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. mondoexuq1wtf vestibular micropapillomatosis|micropapillomatosis labialis NCIT:C40290|DOID:6569|UMLS:C1519982 owl:Class MONDO:0002194 biolink:NamedThing vestibular papilloma A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. mondoexuq1wtf mammalian vulva squamous papilloma|vestibular papilloma|vulvar squamous papilloma DOID:2071|NCIT:C6376|UMLS:C1336982 owl:Class MONDO:0008518 biolink:NamedThing calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. mondoexuq1wtf calcaneonavicular coalition|synostoses, tarsal, carpal, and digital|multiple synostosis syndrome|synostoses, tarsal, carpal and digital UMLS:C0175700|SCTID:62628008|GARD:0009863|MESH:C538156|OMIM:186400|DOID:14762|ICD9:755.8 owl:Class MONDO:0001411 biolink:NamedThing synostosis A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. mondoexuq1wtf MESH:D013580|DOID:11971 owl:Class MONDO:0020812 biolink:NamedThing exposure, dental pulp The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. mondoexuq1wtf Dental Pulp Exposure|PULP EXPOSURE DENT|EXPOSURE DENT PULP|Exposure, Dental Pulp|Pulp Exposure, Dental|DENT PULP EXPOSURE|Exposure of tooth pulp UMLS:C0011406|MESH:D003789|EFO:1001782 owl:Class MONDO:0003394 biolink:NamedThing dental pulp disease A disease involving the dental pulp. mondoexuq1wtf dental pulp disease or disorder|disease of dental pulp|dental pulp disorder|disorder of dental pulp|disease or disorder of dental pulp|dental pulp disease|pulp disorder|disorder of pulp of tooth NCIT:C34530|UMLS:C0011405|DOID:5330|SCTID:57203004|MESH:D003788|ICD9:522.9 owl:Class MONDO:0010396 biolink:NamedThing developmental and epileptic encephalopathy, 2 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. mondoexuq1wtf epileptic encephalopathy, early infantile, type 2|early infantile epileptic encephalopathy caused by mutation in CDKL5|epileptic encephalopathy, early infantile, 2|DEE2|infantile spasm syndrome, X-linked 2|CDKL5 early infantile epileptic encephalopathy|EIEE2 DOID:0080467|MESH:C564064|OMIM:300672|Orphanet:505652|ICD10:G40.4|UMLS:C1839333 owl:Class MONDO:0015905 biolink:NamedThing syndromic dyslipidemia A inherited lipid metabolism disorder that is part of a larger syndrome. mondoexuq1wtf rare syndromic dyslipidemia|complex dyslipidemia|syndromic inherited lipid metabolism disorder|syndrome associated with inherited lipid metabolism disorder Orphanet:181437|SCTID:109041000119107|UMLS:C3875286 owl:Class MONDO:0016063 biolink:NamedThing Cowden disease mondoexuq1wtf MHAM|CD|Cowden's disease|Cowden disease|Cowden syndrome|multiple hamartoma syndrome|dysplastic gangliocytoma of cerebellum MedDRA:10051906|MESH:D006223|GARD:0006202|NCIT:C3076|Orphanet:201|UMLS:C0018553|ICD10:Q85.8|OMIMPS:158350|DOID:6457|SCTID:58037000 owl:Class MONDO:0015185 biolink:NamedThing intestinal polyposis syndrome mondoexuq1wtf UMLS:CN197525|SCTID:254589009|MedDRA:10057018|UMLS:C0345891|NCIT:C155954|Orphanet:104010 owl:Class MONDO:0016140 biolink:NamedThing sarcoglycanopathy Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. mondoexuq1wtf qualitative or quantitative defects of sarcoglycan MESH:D058088|Orphanet:207052 owl:Class MONDO:0044971 biolink:NamedThing disease of macromolecular complex mondoexuq1wtf owl:Class MONDO:0002654 biolink:NamedThing uterine disease A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. mondoexuq1wtf uterus disease or disorder|disease of uterus|disorder of uterus|uterus disease|uterine disease|disease or disorder of uterus|uterine disorder SCTID:12337004|ICD9:621.8|DOID:345|MESH:D014591|ICD10:N85.9|NCIT:C26907|ICD9:621.9|UMLS:C0042131 owl:Class MONDO:0002263 biolink:NamedThing female reproductive system disease A disease involving the female reproductive system. mondoexuq1wtf female reproductive system disease or disorder|gynecological disease|female reproductive disease|disorder of female genital system|disease of female genital system|disorder of female reproductive system|female reproductive system disorder|disease or disorder of female reproductive system|female reproductive system disease|disease of female reproductive system|disorder of female genital tract MESH:D005831|NCIT:C27020|DOID:229|SCTID:310789003|ICD9:629.9 owl:Class MONDO:0001586 biolink:NamedThing mucopolysaccharidosis type 1 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). mondoexuq1wtf MPS I|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|severe MPS I (subtype, also known as Hurler syndrome)|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|mucopolysaccharidosis, MPS-I|IDUA deficiency|mucopolysaccharidosis type I|lipochondrodystrophy|Hurler syndrome|MPS 1|mucopolysaccharidosis, type 1|MPS I - Hurler syndrome|Hurler-Scheie syndrome (subtype)|mucopolysaccharidosis I|MPS1|Hurler syndrome (subtype)|Alpha-L-iduronidase deficiency|mucopolysaccharidosis type 1|MPSI|iduronidase deficiency disease GARD:0010335|ICD10:E76.0|DOID:12802|NCIT:C85053|SCTID:75610003|MedDRA:10056886|Orphanet:579 owl:Class MONDO:0019058 biolink:NamedThing neurometabolic disease mondoexuq1wtf Orphanet:68385|UMLS:CN205539 owl:Class MONDO:0017609 biolink:NamedThing renal tubular dysgenesis Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. mondoexuq1wtf primitive renal tubule syndrome|renotubular dysgenesis GARD:0000379|SCTID:702397002|ICD10:Q63.8|Orphanet:3033 owl:Class MONDO:0019720 biolink:NamedThing non-syndromic renal or urinary tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. mondoexuq1wtf nonsyndromic congenital anomaly of kidney and urinary tract|isolated congenital anomaly of kidney and urinary tract|nonsyndromic renal or urinary tract malformation|isolated renal or urinary tract malformation Orphanet:93546 owl:Class MONDO:0013455 biolink:NamedThing hypertrophic cardiomyopathy 16 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. mondoexuq1wtf cardiomyopathy, familial hypertrophic, type 16|CMH16|cardiomyopathy, familial hypertrophic, 16|cardiomyopathy familial hypertrophic 16|MYOZ2 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYOZ2|hypertrophic cardiomyopathy type 16 DOID:0110322|UMLS:C3151204|OMIM:613838 owl:Class MONDO:0024573 biolink:NamedThing familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. mondoexuq1wtf hereditary hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic|hypertrophic familial cardiomyopathy GARD:0007229|NCIT:C84773|MESH:D024741|SCTID:471885006|OMIMPS:192600|DOID:0080326 owl:Class MONDO:0013456 biolink:NamedThing constitutional megaloblastic anemia with severe neurologic disease mondoexuq1wtf megaloblastic anemia due to dihydrofolate reductase deficiency|dihydrofolate reductase deficiency|DHFR deficiency ICD10:D52.8|OMIM:613839|Orphanet:319651|SCTID:124178006|MESH:C565095|GARD:0011000 owl:Class MONDO:0015656 biolink:NamedThing metabolic disease with epilepsy mondoexuq1wtf metabolic diseases with epilepsy UMLS:C1299598|Orphanet:166481 owl:Class MONDO:0017361 biolink:NamedThing congenital rubella syndrome An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. mondoexuq1wtf CRS|congenital rubella syndrome|rubella congenital|mother-to-child transmission of rubella syndrome|fetal rubella syndrome|congenital rubella ICD10:P35.0|COHD:433869|MedDRA:10010618|Orphanet:290|SCTID:1857005|UMLS:C0035921|EFO:0007218|MESH:D012410|NCIT:C34992|ICD9:771.0|GARD:0004744 owl:Class MONDO:0004656 biolink:NamedThing rubella A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. mondoexuq1wtf Rubella virus infectious disease|three-Day Measles|Rubella virus disease or disorder|Rubella infection|german measles|three day measles|Rubella virus caused disease or disorder ICD9:056|EFO:1002026|ICD10:B06|MESH:D012409|GARD:0004742|DOID:8781|SCTID:36653000|NCIT:C85051|UMLS:C0035920|ICD10:B06.9 https://rarediseases.info.nih.gov/diseases/4742/rubella owl:Class MONDO:0014399 biolink:NamedThing ataxia-telangiectasia-like disorder 2 mondoexuq1wtf PCNA-related progressive neurodegenerative photosensitivity syndrome|ataxia-telangiectasia-like disorder 2|ATLD2|ataxia-telangiectasia-like disorder type 2 OMIM:615919|UMLS:C4014676|Orphanet:438134|ICD10:G11.3 owl:Class MONDO:0007093 biolink:NamedThing hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. mondoexuq1wtf amelogenesis imperfecta type 4|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, type 4|amelogenesis imperfecta caused by mutation in DLX3|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|AIHHT|AI4|amelogenesis imperfecta, type IV DOID:0110053|Orphanet:100034|MESH:C566293|UMLS:C1863012|ICD10:K00.5|OMIM:104510 owl:Class MONDO:0019507 biolink:NamedThing amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. mondoexuq1wtf ICD10:K00.5|OMIMPS:104500|GARD:0005791|DOID:2187|Orphanet:88661|CSP:0828-0533|ICD9:520.5|MESH:D000567|SCTID:78494001 https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta owl:Class MONDO:0007444 biolink:NamedThing dermal Ridges, patternless mondoexuq1wtf dermal Ridges, patternless MESH:C565109|UMLS:C1852160|OMIM:125540 owl:Class MONDO:0010752 biolink:NamedThing VACTERL association, X-linked, with or without hydrocephalus mondoexuq1wtf VACTERL association with hydrocephaly, X-linked|VACTERL-H, X-linked|X-linked VACTERL-H syndrome|VACTERL association, X-linked, with or without hydrocephalus|VACTERLX GARD:0008498|DOID:0111766|OMIM:314390|UMLS:C2931228 owl:Class MONDO:0100196 biolink:NamedThing TPM2-related myopathy A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. mondoexuq1wtf congenital myopathy related to TPM2|autosomal dominant TPM2-related myopathy|TPM2 myopathy The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019952 biolink:NamedThing congenital myopathy mondoexuq1wtf myopathy congenital|batten Turner congenital myopathy Orphanet:97245|MedDRA:10062547|GARD:0005898|ICD10:G71.2|DOID:0080100 owl:Class MONDO:0016560 biolink:NamedThing ptosis-syndactyly-learning difficulties syndrome mondoexuq1wtf Orphanet:238766|UMLS:CN201643 owl:Class MONDO:0011529 biolink:NamedThing spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. mondoexuq1wtf cerebellar ataxia, autosomal dominant with mental retardation|spinocerebellar ataxia type 13|spinocerebellar ataxia 13|autosomal dominant cerebellar ataxia with mental retardation|autosomal dominant cerebellar ataxia with intellectual disability|SCA13|cerebellar ataxia, autosomal dominant with intellectual disability DOID:0050963|MESH:C537195|ICD10:G11.2|GARD:0009611|SCTID:719209002|UMLS:C1854488|Orphanet:98768|OMIM:605259|UMLS:C4304884 owl:Class MONDO:0005611 biolink:NamedThing bladder transitional cell carcinoma The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. mondoexuq1wtf urothelial carcinoma of the urinary bladder|urothelial bladder carcinoma|transitional cell carcinoma of the urinary bladder|bladder urothelial cancer|urinary bladder urothelial carcinoma|transitional cell carcinoma of bladder|BLCA|urinary bladder transitional cell carcinoma|bladder transitional cell carcinoma|bladder urothelial carcinoma NCIT:C39851|EFO:0006544|DOID:4006|ONCOTREE:BLCA|SCTID:255109008|UMLS:C0279680 owl:Class MONDO:0004986 biolink:NamedThing urinary bladder carcinoma A carcinoma that arises from epithelial cells of the urinary bladder mondoexuq1wtf carcinoma of urinary bladder|carcinoma of the bladder|bladder carcinoma|cancer of the bladder|cancer of the urinary bladder|urinary bladder cancer|bladder cancer|carcinoma of the urinary bladder|urinary bladder carcinoma|cancer of bladder|carcinoma of bladder|cancer of urinary bladder|carcinoma bladder NCIT:C4912|SCTID:255108000|UMLS:C0699885|HP:0002862|DOID:4007|EFO:0000292 owl:Class MONDO:0009131 biolink:NamedThing Riley-Day syndrome A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. mondoexuq1wtf HSN 3|familial autonomic nervous dysfunction|neuropathy, hereditary sensory and autonomic, type III|hereditary sensory neuropathy type 3|Riley-Day syndrome|hereditary sensory and autonomic neuropathy 3|Riley Day syndrome|HSAN3|hereditary sensory and autonomic neuropathy type 3|HSAN III|hereditary sensory and autonomic neuropathy type III|dysautonomia, familial|neuropathy, hereditary sensory and autonomic, type 3|HSAN 3|familial dysautonomia MedDRA:10039179|DOID:11589|NCIT:C84706|Orphanet:1764|SCTID:29159009|ICD10:G90.1|UMLS:C0013364|COHD:4104196|OMIM:223900|GARD:0007581|MESH:D004402 owl:Class MONDO:0021154 biolink:NamedThing dermis disease A disease that involves the dermis. mondoexuq1wtf disease of dermis|dermis disease or disorder|disease or disorder of dermis|other dermis disorder|disorder of dermis|dermis disease UMLS:CN227618|Orphanet:79381 owl:Class MONDO:0007073 biolink:NamedThing hypoglossia-hypodactyly syndrome Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. mondoexuq1wtf Jussieu syndrome|hypoglossia-hypodactylia|peromelia with micrognathia|aglossia-adactylia|oromandibular limb hypoplasia|peromelia with micrognathism|aglossia-adactylia syndrome|Hanhart syndrome|aglossia adactylia|hypoglossia-hypodactylia syndrome Orphanet:989|ICD10:Q87.2|SCTID:35031005|OMIM:103300|ICD9:759.89|GARD:0000068 owl:Class MONDO:0043007 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. mondoexuq1wtf genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Orphanet:330197 owl:Class MONDO:0018843 biolink:NamedThing embryonal carcinoma of the central nervous system A embryonal carcinoma that involves the central nervous system. mondoexuq1wtf embryonal carcinoma of CNS|central nervous system embryonal carcinoma|embryonal carcinoma|embryonal carcinoma of the central nervous system|embryonal carcinoma of the CNS ICD10:C71.9|DOID:7232|Orphanet:48736|UMLS:C1333377|NCIT:C7010|ONCOTREE:BEC owl:Class MONDO:0002714 biolink:NamedThing central nervous system cancer A malignant neoplasm involving the central nervous system mondoexuq1wtf malignant CNS neoplasm|malignant tumor of the CNS|cancer of the central nervous system|central nervous system neoplasms, malignant|malignant tumor of central nervous system|CNS cancer|cancer of central nervous system|malignant CNS neoplasms|malignant neoplasm of the CNS|cancer of CNS|malignant central nervous system tumor|malignant neoplasm of central nervous system|central nervous system cancer|malignant tumor of CNS|CNS malignant neoplasms|malignant central nervous system neoplasm|cancer of the CNS|malignant neoplasm of CNS|CNS neoplasms, malignant|malignant tumor of the central nervous system|central nervous system tumors|malignant CNS tumor|central nervous system tumor|malignant neoplasm of the central nervous system|CNS neoplasm SCTID:126951006|ICD9:239.7|EFO:0000326|NCIT:C4627|ICD10:C72.9|MESH:D016543|DOID:3620 owl:Class MONDO:0021327 biolink:NamedThing carcinoma of urethra A carcinoma that involves the urethra. mondoexuq1wtf carcinoma of urethra|urethra carcinoma|urethral cancer|urethral carcinoma|carcinoma of the urethra NCIT:C9106|SCTID:448954003 owl:Class MONDO:0004993 biolink:NamedThing carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. mondoexuq1wtf carcinoma|Other carcinoma|malignant epithelial neoplasm|epithelial carcinoma|epithelioma|malignant epithelioma|epithelioma malignant|carcinoma, malignant|malignant epithelial tumor SCTID:722688002|ICDO:8011/3|CSP:2000-1867|ICDO:8010/3|UMLS:C0007097|DOID:305|EFO:0000313|MESH:D002277|NCIT:C2916 owl:Class MONDO:0022841 biolink:NamedThing congenital hypotrichosis milia mondoexuq1wtf GARD:0001488 https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia owl:Class MONDO:0003037 biolink:NamedThing hypotrichosis A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. mondoexuq1wtf ICD9:704.09|NCIT:C34720|OMIMPS:605389|MESH:D007039|DOID:4535|SCTID:53602002 owl:Class MONDO:0007450 biolink:NamedThing neurohypophyseal diabetes insipidus Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. mondoexuq1wtf Arginine vasopressin deficiency|pituitary diabetes insipidus|neurogenic diabetes insipidus|AVP deficiency|ADH deficiency|antidiuretic hormone deficiency|vasopressin defective diabetes insipidus|diabetes insipidus, primary central|vasopressin deficiency|hereditary central diabetes insipidus|hereditary CDI|diabetes insipidus of pituitary gland|diabetes insipidus, neurohypophyseal|pituitary gland diabetes insipidus|hereditary neurogenic diabetes insipidus|diabetes insipidus, cranial type OMIM:125700|SCTID:45369008|NCIT:C84933|DOID:12388|Orphanet:30925|ICD10:E23.2 owl:Class MONDO:0000426 biolink:NamedThing autosomal dominant disease Autosomal dominant form of disease. mondoexuq1wtf disease, autosomal dominant|autosomal dominant hereditary disorder|autosomal dominant disease or disorder|disease or disorder, autosomal dominant|autosomal dominant inherited disorder UMLS:C0265385|DOID:0050736|SCTID:11164009|ICD9:758.5 owl:Class MONDO:0000460 biolink:NamedThing neural glioblastoma A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5. mondoexuq1wtf neural glioblastoma|glioblastoma neural subtype NCIT:C111693|UMLS:C3828832|DOID:0050806 owl:Class MONDO:0018177 biolink:NamedThing glioblastoma The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) mondoexuq1wtf GBM|grade IV astrocytic tumor|glioblastoma (disease)|glioblastoma multiforme|glioblastoma multiforme (disease)|grade IV adult astrocytic tumor|grade IV astrocytic neoplasm|primary glioblastoma multiforme|GBM (glioblastoma)|giant cell glioblastoma (histologic variant)|glioblastoma|grade IV astrocytoma|WHO grade IV glioma|spongioblastoma multiforme|gliosarcoma (histologic variant) glioblastoma (disease) GARD:0002491|ONCOTREE:GB|MedDRA:10018336|MedDRA:10018337|UMLS:C1621958|HP:0100843|ICDO:9440/3|ICD10:C71.9|SCTID:393563007|NCIT:C3058|HP:0012174|UMLS:CN227279|DOID:3068|ONCOTREE:GBM|UMLS:C0017636|Orphanet:360 owl:Class MONDO:0007240 biolink:NamedThing progressive familial heart block, type 1A An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. mondoexuq1wtf progressive familial heart block type IA|SCN5A progressive familial heart block|Lenegre-Lev disease|progressive familial heart block type 1A|Lev disease|heart block, nonprogressive|heart block progressive familial type 1|hereditary bundle branch system defect|PFHB1A|progressive familial heart block caused by mutation in SCN5A|heart block, progressive familial, type 1|Lenegre's disease|Lenegre disease|Lenegre's syndrome|progressive familial heart block, type IA|Cardiac conduction defect, progressive|Cardiac conduction defect, nonprogressive Editor note: consider separating aquired and inherited COHD:313791|EFO:0004138|GARD:0001093|NCIT:C126651|MESH:D002037|DOID:0111074|OMIM:113900 owl:Class MONDO:0005449 biolink:NamedThing conduction system disorder A disease involving the conducting system of heart. mondoexuq1wtf disorder of conducting system of heart|conducting system of heart disease|conducting system of heart disease or disorder|disease or disorder of conducting system of heart|disease of conducting system of heart EFO:0005137 owl:Class MONDO:0008515 biolink:NamedThing syndactyly type 4 Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). mondoexuq1wtf syndactyly, type 4|non-syndromic syndactyly caused by mutation in LMBR1|Haas type syndactyly|polysyndactyly type Haas|polysyndactyly, Haas type|SDTY4|Sd4|syndactyly, type IV|LMBR1 non-syndromic syndactyly GARD:0004434|SCTID:719158007|ICD10:Q70.4|UMLS:C1861355|OMIM:186200|Orphanet:93405|MESH:C566092 https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 owl:Class MONDO:0019530 biolink:NamedThing non-syndromic syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. mondoexuq1wtf nonsyndromic syndactyly|syndactyly|webbing of digits|symphalangy|chromosome 2q35 duplication syndrome|symphalangism|isolated syndactyly Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy ICD10:Q70.9|ICD10:Q70.1|MedDRA:10042778|ICD10:Q70.2|ICD10:Q70.4|ICD10:Q70.0|UMLS:C0039075|Orphanet:90025|NCIT:C87125|ICD10:Q70.3 owl:Class MONDO:0008308 biolink:NamedThing priapism, familial idiopathic mondoexuq1wtf familial idiopathic priapism|priapism, familial idiopathic MESH:C531791|OMIM:176620|UMLS:C1867771|GARD:0010016 owl:Class MONDO:0015246 biolink:NamedThing syndromic anorectal malformation A anorectal malformation that is part of a larger syndrome. mondoexuq1wtf syndrome associated with anorectal malformation|syndromic anorectal malformation Orphanet:117573|UMLS:CN226645 owl:Class MONDO:0100138 biolink:NamedThing X-linked recessive mitochondrial myopathy A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. mondoexuq1wtf X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features owl:Class MONDO:0020605 biolink:NamedThing X-linked recessive disease X-linked recessive form of disease. mondoexuq1wtf DOID:0080012 owl:Class MONDO:0001792 biolink:NamedThing epiphora due to insufficient drainage mondoexuq1wtf ICD9:375.22|ICD10:H04.22|SCTID:85042000|UMLS:C0155234|COHD:438156|DOID:13756 owl:Class MONDO:0001793 biolink:NamedThing excessive tearing Diseases of the lacrimal apparatus. mondoexuq1wtf lacrimal apparatus disease|apparatus disease, lacrimal|disease, lacrimal apparatus|excessive tear production|diseases, lacrimal apparatus|apparatus diseases, lacrimal|watering eye|epiphora UMLS:C0152227|ICD10:H04.2|SCTID:193982009|ICD10:H04.20|MESH:D007766|DOID:13757|ICD9:375.2|ICD9:375.20|COHD:435553 owl:Class MONDO:0014317 biolink:NamedThing pancytopenia-developmental delay syndrome mondoexuq1wtf bone marrow failure syndrome 2|bone marrow failure syndrome type 2|Trilineage bone marrow failure-developmental delay syndrome|BMFS2 UMLS:C3810350|ICD10:D61.0|Orphanet:401764|OMIM:615715 owl:Class MONDO:0000159 biolink:NamedThing bone marrow failure syndrome mondoexuq1wtf Genetic heterogeneity of OMIM 614675 includes 615715. DC:0000621|MESH:C536572|OMIMPS:614675|UMLS:C2931245 owl:Class MONDO:0005913 biolink:NamedThing phlebotomus fever Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. mondoexuq1wtf Sandfly-borne phleboviral disease|Sandfly-borne Bunyavirus fever|pappataci fever|Sandfly fever|Sandfly-borne arboviral fever DOID:11360|ICD10:A93.1|SCTID:407476002|EFO:0007437|UMLS:C0030372|MESH:D010217|ICD9:066.0 owl:Class MONDO:0100120 biolink:NamedThing vector-borne disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. mondoexuq1wtf vector-borne infectious disease|vector-borne infection http://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-2825-0621 owl:Class MONDO:0015411 biolink:NamedThing facial cleft A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. mondoexuq1wtf prosoposchisis|cleft face|craniofacial cleft SCTID:92821006|Orphanet:141229|NCIT:C124510|ICD10:Q18.8 owl:Class MONDO:0020651 biolink:NamedThing mixed germ cell tumor of vulva mondoexuq1wtf ONCOTREE:VMGCT owl:Class MONDO:0001528 biolink:NamedThing vulva cancer A primary or metastatic malignant neoplasm involving the vulva. mondoexuq1wtf Ca vulva|malignant vulva neoplasm|mammalian vulva cancer|malignant tumor of the vulva|malignant vulvar neoplasm|neoplasm of vulva|malignant neoplasm of vulva, unspecified|vulvar cancer|malignant mammalian vulva neoplasm|malignant neoplasm of vulva|vulval cancer|vulval neoplasm|malignant neoplasm of mammalian vulva|malignant tumor of vulva|malignant vulvar tumor|malignant neoplasm of the vulva|malignant vulva tumor|cancer of mammalian vulva|malignant neoplasm of vulva unspecified SCTID:363367000|ICD10:C51.9|GARD:0009349|NCIT:C7502|DOID:1245|ICD9:184.4|ICD10:C51|MESH:D014846 owl:Class MONDO:0003842 biolink:NamedThing childhood cerebellar astrocytic neoplasm Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. mondoexuq1wtf cerebellar astrocytoma|pediatric astrocytoma of cerebellum|cerebellar astrocytoma, childhood|pediatric cerebellar astrocytoma|childhood cerebellar astrocytoma|cerebellum childhood astrocytic tumor|cerebellum juvenile astrocytoma|pediatric astrocytoma of the cerebellum|childhood astrocytic tumor of cerebellum|childhood astrocytoma of cerebellum|childhood astrocytoma of the cerebellum GARD:0009301|DOID:6286|UMLS:C0278594|NCIT:C6286 owl:Class MONDO:0003263 biolink:NamedThing childhood cerebellar neoplasm A neoplasm that affects the cerebellum and occurs during childhood. mondoexuq1wtf childhood cerebellar neoplasm|childhood tumor of the cerebellum|childhood cerebellar tumors|childhood cerebellar neoplasms|pediatric neoplasm of the cerebellum|pediatric neoplasm of cerebellum|childhood neoplasm of the cerebellum|pediatric tumor of the cerebellum|childhood cerebellar tumor|childhood tumor of cerebellum|childhood neoplasm of cerebellum|pediatric tumor of cerebellum|pediatric cerebellar neoplasm|pediatric cerebellar tumor UMLS:C1332959|DOID:5059|NCIT:C5970 owl:Class MONDO:0006544 biolink:NamedThing erythema infectiosum A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. mondoexuq1wtf fifth disease COHD:134569|NCIT:C84695|ICD10:B08.3|UMLS:C0085273|EFO:1000693|DOID:8743|ICD9:057.0|SCTID:34730008|MESH:D016731 owl:Class MONDO:0005108 biolink:NamedThing viral infectious disease Any disease caused by a virus. mondoexuq1wtf infections, Viruses|viral disease|Viruses infection|Viruses caused disease or disorder|virus infection|Viruses disease or disorder|viral infection|viral disorder|Viruses infectious disease|infection, viral ICD9:066.9|NCIT:C3439|ICD10:B34.9|ICD9:060-066.99|MESH:D014777|SCTID:34014006|ICD10:B34|ICD9:079.99|DOID:934|EFO:0000763|ICD10:A94|COHD:440029|ICD9:078.89 owl:Class MONDO:0008719 biolink:NamedThing acrorenal syndrome, autosomal recessive Autosomal recessive form of acrorenal syndrome. mondoexuq1wtf Curran syndrome|acrorenal syndrome, autosomal recessive|acrorenal syndrome autosomal recessive|acrorenal syndrome recessive|autosomal recessive acrorenal syndrome OMIM:201310|UMLS:C0796290|MESH:C535666|GARD:0000514 owl:Class MONDO:0006025 biolink:NamedThing autosomal recessive disease Autosomal recessive form of disease. mondoexuq1wtf recessive hereditary disorder (autosomal)|autosomal recessive hereditary disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease|disease or disorder, autosomal recessive|autosomal recessive disease or disorder|disease, autosomal recessive|autosomal recessive inherited disorder EFO:1000017|ICD9:758.5|SCTID:85995004|DOID:0050737|UMLS:C0265388 owl:Class MONDO:0020798 biolink:NamedThing hypoparathyroidism, familial isolated, 2 mondoexuq1wtf FIH2|hypoparathyroidism, familial isolated, 2 OMIM:618883 owl:Class MONDO:0016390 biolink:NamedThing familial hypoparathyroidism A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. mondoexuq1wtf familial isolated hypoparathyroidism|hypoparathyroidism, familial isolated|FIH|hypoparathyroidism, familial|hypoparathyroidism familial isolated UMLS:C1832648|GARD:0002910|ICD10:E20.8|SCTID:725036000|Orphanet:2238|DOID:0111387|OMIMPS:146200|MESH:C537156 owl:Class MONDO:0002546 biolink:NamedThing schwannoma A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. mondoexuq1wtf schwannoma|schwannoma (WHO grade I)|neurilemmoma|peripheral fibroblastoma|neurinoma|benign schwannoma|benign neurilemmoma|psammomatous schwannoma|SCHW|schwannoma, benign|neurolemmoma UMLS:C0027809|DOID:955|UMLS:CN202001|DOID:3192|GARD:0004767|EFO:0000693|Orphanet:252164|NCIT:C3269|MedDRA:10029235|SCTID:404022001|ICDO:9560/0|ICD9:215.9|ONCOTREE:SCHW|MedDRA:10029234 https://rarediseases.info.nih.gov/diseases/4767/schwannoma owl:Class MONDO:0016752 biolink:NamedThing benign peripheral nerve sheath tumor mondoexuq1wtf BPNST Editor note: consider relationship to granular cell tumor UMLS:CN202000|Orphanet:252131 owl:Class MONDO:0014426 biolink:NamedThing nanophthalmos 4 Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene. mondoexuq1wtf nanophthalmos type 4|NNO4|TMEM98 nanophthalmia|Nanophthalmia 4|nanophthalmos 4|nanophthalmia caused by mutation in TMEM98 OMIM:615972|UMLS:C4014848 owl:Class MONDO:0005514 biolink:NamedThing nanophthalmia Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. mondoexuq1wtf Orphanet:35612|OMIMPS:600165|DOID:0080634|SCTID:716775009 owl:Class MONDO:0009578 biolink:NamedThing neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. mondoexuq1wtf NCM|NCMS|Neuromelanosis|melanosis, neurocutaneous|neurocutaneous melanosis syndrome|neurocutaneous melanosis ICD10:D22.3|OMIM:249400|MESH:C537387|GARD:0007186|ICD10:D22.4|ICD10:D22.6|ICD10:D22.7|ICD10:D22.5|Orphanet:2481 owl:Class MONDO:0000648 biolink:NamedThing nervous system benign neoplasm Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). mondoexuq1wtf benign nervous system neoplasm|nervous system benign neoplasm|benign neoplasm of the nervous system|benign tumor of nervous system|benign neoplasm of nervous system|benign tumor of the nervous system|nervous system neoplasm, benign|benign nervous system tumor UMLS:C0497550|ICD9:225.8|NCIT:C4789|COHD:373432|DOID:0060115|ICD9:225.9|SCTID:92247009 owl:Class MONDO:0018150 biolink:NamedThing Gaucher disease Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). mondoexuq1wtf Gaucher disease|glucosylceramidase deficiency|Gaucher syndrome|glucosyl cerebroside lipidosis|kerasin lipoidosis|acid beta-glucosidase deficiency|kerasin thesaurismosis|glucocerebrosidosis|sphingolipidosis 1|Gaucher's disease|lipoid histiocytosis (kerasin type)|acute cerebral Gaucher disease|glocucerebrosidase deficiency|kerasin histiocytosis|glucocerebrosidase deficiency|lipoid histiocytosis|glucosylceramide beta-glucosidase deficiency|Gaucher splenomegaly|cerebroside lipidosis syndrome UMLS:C0017205|NCIT:C61268|MESH:D005776|DOID:1926|Orphanet:355|GARD:0008233|SCTID:190794006|ICD10:E75.2|MedDRA:10018048|ICD10:E75.22 owl:Class MONDO:0019255 biolink:NamedThing sphingolipidosis An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. mondoexuq1wtf sphingolipidoses GARD:0007672|UMLS:C0037899|ICD10:E75.1|MESH:D013106|DOID:1927|SCTID:238028008|ICD10:E75.0|NCIT:C117254|Orphanet:79225|ICD10:E75.3|ICD10:E75.2 https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis owl:Class MONDO:0002188 biolink:NamedThing vulvar nodular hidradenoma A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. mondoexuq1wtf vulvar nodular hidradenoma|mammalian vulva nodular hidradenoma|nodular hidradenoma of mammalian vulva DOID:2060|NCIT:C40312|UMLS:C1520091 owl:Class MONDO:0002189 biolink:NamedThing nodular hidradenoma A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. mondoexuq1wtf eccrine nodular hidradenoma|nodular hidradenoma|solid and cystic hidradenoma SCTID:253020008|NCIT:C7568|DOID:2061|ICDO:8402/0 owl:Class MONDO:0002034 biolink:NamedThing cecum lymphoma An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. mondoexuq1wtf primary cecum lymphoma|lymphoma of cecum|cecal lymphoma|lymphoma of the cecum|lymphoma of caecum|caecum lymphoma|cecum lymphoma NCIT:C5515|UMLS:C1332867|DOID:1522 owl:Class MONDO:0002033 biolink:NamedThing cecum cancer A malignant neoplasm involving the caecum mondoexuq1wtf caecum cancer|malignant caecum neoplasm|malignant neoplasm of caecum|cancer of caecum|malignant cecum neoplasm|malignant tumor of the cecum|malignant neoplasm of the cecum|malignant cecum tumor|malignant tumor of cecum|malignant neoplasm of cecum DOID:1521|NCIT:C9329|ICD10:C18.0|COHD:443391|ICD9:153.4|UMLS:C0153437 owl:Class MONDO:0017470 biolink:NamedThing congenital knee dislocation mondoexuq1wtf congenital knee dislocation (disease)|congenital knee dislocation congenital knee dislocation (disease) SCTID:59068006|ICD9:754.41|ICD10:Q68.2|HP:0005191|MedDRA:10010520|Orphanet:295034 owl:Class MONDO:0017430 biolink:NamedThing non-syndromic congenital joint dislocations mondoexuq1wtf congenital joint dislocations Orphanet:294951 owl:Class MONDO:0006660 biolink:NamedThing arthus reaction A localized vasculitis resulting from deposition of antibody-antigen complexes. mondoexuq1wtf arthus type urticaria|arthus phenomenon|arthus reaction|arthus reaction (function) Editor note: DO classifies as type III, NCIT as type I ICD10:T78.41|EFO:1000821|ICD9:708.8|ICD9:995.21|MedDRA:10003420|DOID:1556|MESH:D001183|UMLS:C0003907|SCTID:402413008|NCIT:C34400 owl:Class MONDO:0007004 biolink:NamedThing type III hypersensitivity disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. mondoexuq1wtf type III hypersensitivity reaction|hypersensitivity reaction type III disease|type 3 hypersensitivity reaction|immune complex disease|disorder of type III hypersensitivity|type III hypersensitivity NCIT:C114346|EFO:1001222|MESH:D007105|UMLS:C0020951|DOID:1557|MedDRA:10045265 owl:Class MONDO:0009515 biolink:NamedThing Norum disease Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. mondoexuq1wtf FLD|lecithin acyltransferase deficiency|LCAT deficiency|complete LCAT deficiency|Norum disease|lecithin:cholesterol acyltransferase deficiency|familial LCAT deficiency SCTID:238091006|ICD10:E78.6|GARD:0004011|NCIT:C84813|Orphanet:79293|OMIM:245900|UMLS:CN205883|DOID:1391 owl:Class MONDO:0018999 biolink:NamedThing LCAT deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. mondoexuq1wtf lecithin-cholesterol acyltransferase deficiency Orphanet:650|SCTID:49227001|ICD10:E78.6 owl:Class MONDO:0012540 biolink:NamedThing age related macular degeneration 4 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. mondoexuq1wtf ARMD4|macular degeneration, age-related, 4|age related macular degeneration type 4|CFH age-related macular degeneration|macular Degeneration, age-related, type 4|age-related macular degeneration caused by mutation in CFH MESH:C565196|OMIM:610698|DOID:0110017|UMLS:C1853147 owl:Class MONDO:0005150 biolink:NamedThing age-related macular degeneration Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. mondoexuq1wtf ARMD|age related macular degeneration|age related Maculopathies|macular degeneration, age-related|age-related macular degeneration|age related maculopathy|AMD|Senile macular retinal degeneration|Senile macular degeneration SCTID:267718000|NCIT:C84391|EFO:0001365|NIFSTD:birnlex_12812|ICD9:362.50|COHD:374028|Orphanet:279|UMLS:C0242383|ICD10:H35.30|DOID:10871|OMIMPS:603075 owl:Class MONDO:0017165 biolink:NamedThing bile acid CoA ligase deficiency and defective amidation Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. mondoexuq1wtf Orphanet:276066|SCTID:717047007|UMLS:C4274079 owl:Class MONDO:0015581 biolink:NamedThing bile acid synthesis defect with cholestasis and malabsorption mondoexuq1wtf ICD10:K76.8|Orphanet:163631 owl:Class MONDO:0013090 biolink:NamedThing chromosome 19q13.11 deletion syndrome The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. mondoexuq1wtf chromosome 19q13.11 deletion syndrome|Del(19)(q13.11)|chromosome 19Q13.11 deletion syndrome, distal|chromosome 19q13.11 deletion syndrome, distal|monosomy 19q13.11|19q13.11 microdeletion syndrome Orphanet:217346|MESH:C567810|UMLS:C2751651|SCTID:719599008|UMLS:C4304577|DOID:0060408|GARD:0010592|OMIM:613026|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome owl:Class MONDO:0021069 biolink:NamedThing malignant endocrine neoplasm A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. mondoexuq1wtf malignant endocrine gland neoplasm|Endocrine tumor|neoplasm of endocrine system|malignant neoplasm of the endocrine gland|endocrine neoplasm|malignant endocrine gland tumor|endocrine neoplasm, malignant|malignant tumor of endocrine gland|malignant endocrine tumor|endocrine gland cancer|endocrine cancer|malignant tumour of endocrine gland|malignant endocrine neoplasm|malignant tumor of the endocrine gland|cancer of endocrine gland|malignant neoplasm of endocrine gland ICD10:C75.9|ICD9:194.9|NCIT:C3575|MESH:D004701|DOID:170 owl:Class MONDO:0004992 biolink:NamedThing cancer A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. mondoexuq1wtf malignant neoplastic disease|MT|organ system cancer|cancer|malignant neoplasm (disease)|malignant Growth|malignant neoplasm|CA|malignancy|malignant tumor|primary cancer|neoplasm, malignant|neoplasm (disease), malignant|cell type cancer DOID:162|NIFSTD:birnlex_406|SCTID:363346000|COHD:443392|EFO:0000311|ICD9:199.1|GARD:0011960|DOID:0050686|ICD10:C80.1|ICDO:8000/3|NCIT:C9305|DOID:0050687|UMLS:C0006826|ICD10:C80|ICD9:199|ICD9:195.8|ONCOTREE:MT owl:Class MONDO:0022963 biolink:NamedThing desmoplastic infantile astrocytoma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) mondoexuq1wtf Desmoplastic infantile astrocytoma|Desmoplastic astrocytoma of infancy|DIA UMLS:C0457179|ONCOTREE:DIA|NCIT:C9476|GARD:0009617|ICDO:9412/1 https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma owl:Class MONDO:0016729 biolink:NamedThing mixed neuronal-glial tumor A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO) mondoexuq1wtf neuronal and Glio-neuronal neoplasm|neuronal and Glio-neuronal tumor|neuronal and mixed neuronal-glial tumor|neuronal and mixed neuronal-glial tumors UMLS:CN201977|UMLS:C0474844|Orphanet:251934|NCIT:C4747 owl:Class MONDO:0004188 biolink:NamedThing iris spindle cell melanoma A spindle cell melanoma that involves the iris. mondoexuq1wtf spindle cell melanoma of the iris|iris spindle cell melanoma|spindle cell melanoma of iris DOID:7328|NCIT:C6098|UMLS:C1334287 owl:Class MONDO:0003744 biolink:NamedThing spindle cell intraocular melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. mondoexuq1wtf spindle cell melanoma of uvea|uveal spindle cell melanoma|spindle cell melanoma of the uvea|spindle cell uveal melanoma DOID:6037|UMLS:C0279687|NCIT:C7986 owl:Class MONDO:0013154 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. mondoexuq1wtf muscle-eye-brain-POMT2 related|MDDGA2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related OMIM:613150|DOID:0111240|UMLS:C3150411|NCIT:C126742 owl:Class MONDO:0000171 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type A mondoexuq1wtf hydrocephalus-agyria-retinal dysplasia syndrome|Pagon syndrome|hard +/- E syndrome|cerebroocular dysgenesis|WWS|hard syndrome|hydrocephalus, agyria and retinal dysplasia|Warburg syndrome|Chemke syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|cerebroocular dysplasia muscular dystrophy syndrome|Walker-Warburg muscular dystrophy|Walker-Warburg syndrome DC:0000659|OMIMPS:236670|NCIT:C99109|SCTID:111504002|UMLS:CN239483|MESH:D058494|GARD:0002599|ICD10:Q04.3|Orphanet:899|DOID:0050560 owl:Class MONDO:0032764 biolink:NamedThing Khan-Khan-Katsanis syndrome mondoexuq1wtf 3K Syndrome|3KS|KHAN-KHAN-KATSANIS SYNDROME OMIM:618460 owl:Class MONDO:0041284 biolink:NamedThing primary motor cortex epilepsy A epilepsy that involves the primary motor cortex. mondoexuq1wtf epilepsy of primary motor cortex|Jacksonian epilepsy|primary motor cortex epilepsy|motor cortex epilepsy Editor note: TODO. Request Jacksonian seizures from HP? SCTID:267592003|UMLS:C0234978 owl:Class MONDO:0044996 biolink:NamedThing cerebral cortex disease A disease or disorder that involves the cerebral cortex. mondoexuq1wtf disease of cerebral cortex|disease or disorder of cerebral cortex|disorder of cerebral cortex|cerebral cortex disease|cerebral cortex disease or disorder UMLS:C1263847|SCTID:128128003 owl:Class MONDO:0013144 biolink:NamedThing antithrombin III deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. mondoexuq1wtf inherited antithrombin deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|hereditary antithrombin deficiency|thrombophilia due to antithrombin III deficiency|AT3D|antithrombin III deficiency|congenital AT-III deficiency|thrombophilia due to antithrombin 3 deficiency|AT III deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|antithrombin 3 deficiency|congenital antithrombin III deficiency ICD10:D68.5|ICD10:D68.59|GARD:0006148|DOID:3755|MESH:D020152|OMIM:613118|SCTID:36351005|NCIT:C98815|Orphanet:82|ICD9:286.9|UMLS:C0272375 owl:Class MONDO:0100240 biolink:NamedThing inherited thrombophilia An instance of thrombophilia that is inherited. mondoexuq1wtf hereditary thrombophilia http://orcid.org/0000-0001-5208-3432 OMIMPS:188050 owl:Class MONDO:0008595 biolink:NamedThing trichoepitheliomas, multiple desmoplastic mondoexuq1wtf trichoepitheliomas, multiple desmoplastic MESH:C566034|UMLS:C1860849|OMIM:190345 owl:Class MONDO:0012839 biolink:NamedThing pyogenic bacterial infections due to MyD88 deficiency Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. mondoexuq1wtf MyD88 deficiency|MYD88D|recurrent pyogenic bacterial infections due to MyD88 deficiency|pyogenic bacterial infections, recurrent, due to MyD88 deficiency UMLS:C2677092|GARD:0012638|ICD10:D84.8|MESH:C567379|OMIM:612260|Orphanet:183713 owl:Class MONDO:0015979 biolink:NamedThing hereditary predisposition to infections mondoexuq1wtf genetic susceptibility to infections due to particular pathogens Editor note: todo logical definition Orphanet:183710|ICD10:D84.8 owl:Class MONDO:0015528 biolink:NamedThing congenital epulis A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative. mondoexuq1wtf gingival granular cell tumor|congenital Epulides|congenital epulis|congenital granular cell tumor|congenital gingival cell tumor|Neumann tumor SCTID:360525006|DOID:7280|Orphanet:157826|UMLS:C0376319|NCIT:C4675|MESH:D005887 owl:Class MONDO:0006499 biolink:NamedThing hamartoma A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. mondoexuq1wtf hamartoma (disease)|hamartoma hamartoma (disease) HP:0010566|UMLS:C0018552|MESH:D006222|EFO:1000634|SCTID:400006008|ICD9:759.6|NCIT:C3075 owl:Class MONDO:0008004 biolink:NamedThing familial mitral valve prolapse An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary mitral valve prolapse (disease)|MVP|mitral valve prolapse, familial, autosomal dominant|mitral valve prolapse, familial GARD:0003687|SCTID:233858000|OMIMPS:157700|Orphanet:741|ICD10:I34.1 owl:Class MONDO:0042966 biolink:NamedThing inherited mitral valve disease An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. mondoexuq1wtf congenital mitral valve abnormality|congenital malformation of mitral valve|hereditary mitral valve disease|congenital anomaly of mitral valve SCTID:75372006 owl:Class MONDO:0036976 biolink:NamedThing benign epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. mondoexuq1wtf benign neoplasm of the epithelium|benign epithelioma|benign epithelial neoplasm|epithelial neoplasm, benign|benign tumor of epithelium|benign neoplasm of epithelium|benign tumor of the epithelium|benign epithelial tumor|epithelioma, benign UMLS:C0334232|ICDO:8011/0|ICDO:8010/0|NCIT:C4092 owl:Class MONDO:0005626 biolink:NamedThing epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. mondoexuq1wtf epithelial neoplasm|epithelioma EFO:0006858|MESH:D009375|SCTID:118285006|NCIT:C3709 owl:Class MONDO:0002843 biolink:NamedThing fungal gastritis Gastritis resulting from fungi. mondoexuq1wtf fungal gastritis|Fungi caused gastritis (disease)|Fungi gastritis (disease) SCTID:723097009|DOID:4034|NCIT:C27342|UMLS:C0948638 owl:Class MONDO:0043424 biolink:NamedThing digestive system infectious disease A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. mondoexuq1wtf digestive system infection|infection of gastrointestinal tract|gastrointestinal infection|gastrointestinal system infection NCIT:C35503|SCTID:715852004 owl:Class MONDO:0001395 biolink:NamedThing macular keratitis mondoexuq1wtf ICD10:H16.11|ICD9:370.22|DOID:11871|SCTID:2853006|UMLS:C0155076 owl:Class MONDO:0003085 biolink:NamedThing keratitis A corneal disease that is characterized by inflammation of the cornea. mondoexuq1wtf cornea inflammation|inflammation of cornea ICD9:370|ICD9:370.9|SCTID:5888003|ICD9:370.8|ICD10:H16|NCIT:C26805|COHD:374035|ICD10:H16.9|DOID:4677|MESH:D007634|UMLS:C0022568 owl:Class MONDO:0003340 biolink:NamedThing malignant glomus tumor A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. mondoexuq1wtf malignant glomus neoplasm|glomus tumor, malignant|malignant glomus tumor|glomangiosarcoma ICDO:8711/3|ICDO:8710/3|ONCOTREE:MGST|NCIT:C4221|UMLS:C1266111|DOID:5233 owl:Class MONDO:0004958 biolink:NamedThing oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. mondoexuq1wtf mouth scc|scc of oral cavity|oral cavity squamous cell cancer|squamous cell carcinoma of the mouth|squamous cell carcinoma of mouth|oral cavity scc|scc of the mouth|squamous cell carcinoma of the oral cavity|squamous cell carcinoma of oral cavity|OCSC|scc of mouth|oral squamous cell carcinoma|scc of the oral cavity|oral cavity squamous cell carcinoma|mouth squamous cell carcinoma Orphanet:502363|SCTID:307502000|ONCOTREE:OCSC|GARD:0007263|NCIT:C4833|EFO:0000199|UMLS:C0585362|DOID:0050866 https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma owl:Class MONDO:0044710 biolink:NamedThing lip and oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. mondoexuq1wtf lip/oral cavity squam. cell car.|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell carcinoma|lip and oral cavity squamous cell cancer UMLS:C0280297|Orphanet:502369|NCIT:C42690 owl:Class MONDO:0013580 biolink:NamedThing pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. mondoexuq1wtf pyruvate dehydrogenase E1-BETA deficiency|PDHBD|pyruvate dehydrogenase complex E1 component subunit beta deficiency|pyruvate dehydrogenase E1-beta deficiency ICD10:E74.4|UMLS:C3279841|Orphanet:255138|MESH:C566729|OMIM:614111 owl:Class MONDO:0021093 biolink:NamedThing cranioectodermal dysplasia 1 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. mondoexuq1wtf CED1|cranioectodermal dysplasia 1|Levin syndrome 1|IFT122 cranioectodermal dysplasia|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia type 1|Sensenbrenner syndrome OMIM:218330 owl:Class MONDO:0009032 biolink:NamedThing cranioectodermal dysplasia Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). mondoexuq1wtf Sensenbrenner syndrome|CED|cranioectodermal dysplasia|Levin syndrome UMLS:C0432235|ICD9:756.9|DOID:0050577|UMLS:CN119432|Orphanet:1515|NCIT:C129305|OMIMPS:218330|ICD10:Q87.5|SCTID:254093009|UMLS:CN016627|GARD:0000359 owl:Class MONDO:0004745 biolink:NamedThing priapism Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. mondoexuq1wtf Mentulagra SCTID:6273006|COHD:315586|UMLS:C0033117|Orphanet:140949|MESH:D011317|ICD9:607.3|ICD10:N48.3|DOID:9286|ICD10:N48.30 owl:Class MONDO:0005294 biolink:NamedThing peripheral vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. mondoexuq1wtf peripheral vascular disorder|disease, peripheral vascular|arterial occlusive disease|vascular disease, peripheral EFO:0003875|DOID:341|ICD9:443.81|NCIT:C35136|COHD:321052|MESH:D016491 owl:Class MONDO:0002571 biolink:NamedThing primary central nervous system lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. mondoexuq1wtf central nervous system lymphoma|primary lymphoma, CNS|primary brain lymphoma|malignant lymphomas of CNS|primary central nervous system lymphoma|malignant lymphomas of the CNS|microglioma|PCNSL|primary CNS lymphoma|CNS lymphoma|lymphoma of central nervous system MONDO:0018732 Orphanet:46135|ICD9:200.5|GARD:0009318|ONCOTREE:PCNSL|ICD10:C83.3|NCIT:C9301|COHD:373152|MedDRA:10036685|EFO:1000157|DOID:3234|UMLS:C0742472|SCTID:307649006 owl:Class MONDO:0000621 biolink:NamedThing immune system cancer A malignant neoplasm involving the immune system mondoexuq1wtf immune system cancer|cancer of immune system|malignant neoplasm of immune system|malignant immune system neoplasm DOID:0060083 owl:Class MONDO:0000337 biolink:NamedThing exanthema subitum An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. mondoexuq1wtf roseola|sixth disease|pseudorubella|roseola Infantum|exanthem subitum UMLS:C0015231|SCTID:54385001|EFO:1001320|ICD10:B08.2|DOID:0050495|NCIT:C128420|ICD9:057.8|ICD9:058.10|MESH:D005077|UMLS:C0595993|ICD10:B08.20|COHD:135745|ICD9:058.1 owl:Class MONDO:0006412 biolink:NamedThing sinus histiocytosis with massive lymphadenopathy A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously. mondoexuq1wtf RDD|Rosai-Dorfman disease SCTID:34287003|MESH:D015618|ICD9:277.89|NCIT:C36075|EFO:1000528|GARD:0007588 owl:Class MONDO:0005833 biolink:NamedThing lymphatic system disease A disease involving the lymphatic part of lymphoid system. mondoexuq1wtf lymphatic disorder|disorder of lymphatic part of lymphoid system|lymphangiopathy|lymphatic disease|swollen glands|glands, swollen|adenopathy|disorder of lymphoid system|disorder of lymph node and lymphatics|disease or disorder of lymphatic part of lymphoid system|disease of lympoid system|swollen gland|lymphatic part of lymphoid system disease or disorder|lymphatic part of lymphoid system disease|lympoid system disease|disease of lymphatic part of lymphoid system|lymphadenopathy|disorder of lymphatic system Editor note: check alignment to anatomy, consider lymphoid system disease NCIT:C50764|UMLS:C0024228|EFO:0007352|MESH:D008206|DOID:75|SCTID:362971004 owl:Class MONDO:0002199 biolink:NamedThing benign mixed tumor of the vulva A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. mondoexuq1wtf chondroid syringoma of the vulva|benign mixed tumor of the vulva NCIT:C40302|UMLS:C1511091|DOID:2078 owl:Class MONDO:0000643 biolink:NamedThing vulvar benign neoplasm A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma. mondoexuq1wtf benign vulva tumor|mammalian vulva benign neoplasm|benign neoplasm of vulva|vulva benign neoplasm|benign vulvar tumor|benign tumor of the vulva|benign vulva neoplasm|benign vulval neoplasm|benign tumor of vulva|benign vulvar neoplasm|benign neoplasm of the vulva NCIT:C3611|COHD:438390|UMLS:C0154003|SCTID:92486005|DOID:0060109 owl:Class MONDO:0014542 biolink:NamedThing congenital myasthenic syndrome 15 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene. mondoexuq1wtf CMS15|ALG14 congenital myasthenic syndrome|myasthenic syndrome, congenital, without tubular aggregates|congenital myasthenic syndrome type 15|myasthenic syndrome, congenital, 15|congenital myasthenic syndrome caused by mutation in ALG14|myasthenic syndrome, congenital, type 15|congenital myasthenic syndrome 15 without tubular aggregates OMIM:616227|UMLS:C4015596|DOID:0110658 owl:Class MONDO:0018144 biolink:NamedThing congenital myasthenic syndromes with glycosylation defect mondoexuq1wtf Orphanet:353327|ICD10:G70.2 owl:Class MONDO:0014643 biolink:NamedThing congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome mondoexuq1wtf BVSYS|BASEL-Vanagaite-SMIRIN-YOSEF syndrome Orphanet:464738|OMIM:616449|UMLS:C4225323 owl:Class MONDO:0044916 biolink:NamedThing extrarenal rhabdoid tumor A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. mondoexuq1wtf malignant extrarenal rhabdoid neoplasm|rhabdoid tumor of soft tissue|extrarenal rhabdoid tumor UMLS:C1304517|SCTID:404089007|NCIT:C6586 owl:Class MONDO:0002728 biolink:NamedThing rhabdoid tumor An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. mondoexuq1wtf rhabdoid tumor|rhabdoid cancer|rhabdoid sarcoma|malignant rhabdoid tumor|malignant rhabdoid tumour DOID:3672|Orphanet:69077|ICDO:8963/3|GARD:0007572|NCIT:C3808|MESH:D018335|EFO:0005701|ONCOTREE:MRT|UMLS:C0206743|ICD10:C49.9 owl:Class MONDO:0003592 biolink:NamedThing gastric liposarcoma A malignant adipose tissue neoplasm of the stomach. mondoexuq1wtf liposarcoma of stomach|stomach liposarcoma|gastric liposarcoma|liposarcoma of the stomach UMLS:C1333778|NCIT:C5488|DOID:5700 owl:Class MONDO:0005060 biolink:NamedThing liposarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. mondoexuq1wtf liposarcoma, malignant|liposarcoma|sarcoma of lip|lip sarcoma GARD:0006913|ICDO:8850/3|MedDRA:10024627|DOID:3382|ONCOTREE:LIPO|Orphanet:69078|ICD10:C49.9|SCTID:254829001|EFO:0000569|MESH:D008080|UMLS:C0023827|ICD9:171.9|NCIT:C3194 https://rarediseases.info.nih.gov/diseases/6913/liposarcoma owl:Class MONDO:0015072 biolink:NamedThing liver neuroendocrine carcinoma An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. mondoexuq1wtf liver neuroendocrine carcinoma|liver neuroendocrine cancer|neuroendocrine carcinoma of liver|primary hepatic neuroendocrine carcinoma|PHNEC|primary liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|HNEC Orphanet:100085|UMLS:CN197365|UMLS:C3273031|ICD10:C22.7|NCIT:C96787|SCTID:716652006 owl:Class MONDO:0018531 biolink:NamedThing carcinoma of liver and intrahepatic biliary tract A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. mondoexuq1wtf liver cancer|liver and intrahepatic bile duct carcinoma|cancer of liver|cancer of the liver and intrahepatic biliary tract|liver and intrahepatic biliary tract carcinoma|liver carcinoma|cancer of liver and intrahepatic biliary tract|carcinoma of liver|hepatic cancer|cancer of the liver|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|carcinoma of liver and IBT|liver and intrahepatic bile duct cancer|liver/hepatobiliary cancer|liver and intrahepatic biliary tract cancer|primary liver carcinoma Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper UMLS:C0279000|ONCOTREE:HCCIHCH|NCIT:C7927|Orphanet:424936 owl:Class MONDO:0016178 biolink:NamedThing peripheral neuropathy associated with monoclonal gammopathy mondoexuq1wtf Orphanet:209010 owl:Class MONDO:0015923 biolink:NamedThing acquired peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. mondoexuq1wtf acquired peripheral neuropathy Orphanet:182086 owl:Class MONDO:0010803 biolink:NamedThing Eiken syndrome Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. mondoexuq1wtf bone modeling defect of hands and feet|Eiken syndrome|Eiken skeletal dysplasia OMIM:600002|DOID:0111732|UMLS:C1838779|MESH:C564010|SCTID:720863002|Orphanet:79106 owl:Class MONDO:0019692 biolink:NamedThing multiple epiphyseal dysplasia and pseudoachondroplasia mondoexuq1wtf ICD10:Q78.8|Orphanet:93429 owl:Class MONDO:0018230 biolink:NamedThing primary bone dysplasia mondoexuq1wtf primary skeletal dysplasia|primary osteodysplasia Editor note: ORDO has these as genetic, but some forms may not be genetic - check this Orphanet:364526 owl:Class MONDO:0008679 biolink:NamedThing Wilms tumor 1 mondoexuq1wtf WT1|Wilms tumor type 1|nephroblastoma|Wilms' tumor|renal Wilms tumor|Wilms tumor 1 UMLS:CN033288|OMIM:194070 owl:Class MONDO:0003321 biolink:NamedThing hereditary Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) mondoexuq1wtf hereditary Wilms' tumor|hereditary kidney adenosarcoma|hereditary Wilms tumor|familial Wilms tumor|hereditary renal adenosarcoma|WT1|familial Wilms' tumor|hereditary nephroblastoma UMLS:C0677779|DOID:5183|NCIT:C8496|OMIMPS:194070 owl:Class MONDO:0021514 biolink:NamedThing benign neoplasm of pericardium A benign neoplasm that involves the pericardium. mondoexuq1wtf benign neoplasm of the pericardium|benign pericardial tumor|benign tumor of pericardium|pericardium benign neoplasm|benign tumor of the pericardium|benign pericardial neoplasm UMLS:C0685118|SCTID:92289001|NCIT:C8536 owl:Class MONDO:0000634 biolink:NamedThing thoracic benign neoplasm A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. mondoexuq1wtf benign thoracic tumor|benign thoracic neoplasm|benign neoplasm of the thorax|benign neoplasm of thorax|thoracic segment of trunk benign neoplasm|benign tumor of thorax|benign tumor of the thorax MONDO:0021448 SCTID:255059002|UMLS:C0346440|ICD9:229.8|DOID:0060097|NCIT:C4565 owl:Class MONDO:0017329 biolink:NamedThing familial vesicoureteral reflux Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. mondoexuq1wtf hereditary vesicoureteral reflux (disease)|familial VUR SCTID:763716008|UMLS:CN202969|ICD10:N13.7|OMIMPS:193000|Orphanet:289365 owl:Class MONDO:0021145 biolink:NamedThing disease of genitourinary system A disease that involves the genitourinary system. mondoexuq1wtf syndrome of the genitourinary system|urogenital disease|urogenital disorder|disease of genitourinary system|disorder of genitourinary system|genitourinary system disease or disorder|genitourinary system disease|disease or disorder of genitourinary system|disorder of the genitourinary system SCTID:42030000|UMLS:C0080276|ICD10:N00.N99 owl:Class MONDO:0007321 biolink:NamedThing autosomal dominant chondrodysplasia punctata Autosomal dominant form of chondrodysplasia punctata. mondoexuq1wtf chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata due to vitamin K deficiency|chondrodysplasia punctata Sheffield type MONDO:0022728 Orphanet:79344|GARD:0001298|MESH:C563248|DOID:0060293|OMIM:118650|ICD10:Q77.3 https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type owl:Class MONDO:0015775 biolink:NamedThing non-rhizomelic chondrodysplasia punctata Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. mondoexuq1wtf Orphanet:176|ICD10:Q77.3 owl:Class MONDO:0017164 biolink:NamedThing hemolytic disease of the newborn with Kell alloimmunization mondoexuq1wtf maternal anti-Kell alloimmunization|anti-K HDN ICD10:P55.8|Orphanet:275944|UMLS:CN202586 owl:Class MONDO:0017163 biolink:NamedThing hemolytic disease due to fetomaternal alloimmunization mondoexuq1wtf hemolytic disease of the fetus and newborn Orphanet:275938|ICD10:P55.0|ICD10:P55.9|ICD10:P55.8|ICD10:P55.1|UMLS:CN202585 owl:Class MONDO:0006221 biolink:NamedThing gastric adenoma A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps. mondoexuq1wtf gastric adenoma|stomach adenoma|adenoma of stomach|adenoma of the stomach EFO:1000268|UMLS:C0149826|NCIT:C7699 owl:Class MONDO:0021085 biolink:NamedThing gastric neoplasm A benign or malignant neoplasm involving the stomach. mondoexuq1wtf neoplasm of the stomach|neoplasm of stomach|gastric tumor|stomach neoplasm|stomach neoplasm (disease)|gastric neoplasm|tumor of the stomach|tumor of stomach|stomach tumor NCIT:C3387|UMLS:C0038356|MESH:D013274|EFO:0003897|SCTID:126824007 owl:Class MONDO:0005169 biolink:NamedThing neoplasm of mature T-cells or NK-cells A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells. mondoexuq1wtf mature T and NK neoplasms|mature T-cell neoplasm|mature T-cell and NK-cell neoplasm EFO:0002426|UMLS:C1334640|ONCOTREE:MTNN|NCIT:C27909 owl:Class MONDO:0024615 biolink:NamedThing T-cell and NK-cell neoplasm mondoexuq1wtf T-cell neoplasm|T-cell and NK-cell neoplasm UMLS:C1336554|NCIT:C27908 owl:Class MONDO:0004592 biolink:NamedThing impetigo A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. mondoexuq1wtf ICD10:L01.00|ICD9:684|MESH:D007169|COHD:140480|SCTID:48277006|ICD10:L01.0|NCIT:C99088|EFO:1000714|DOID:8504|UMLS:C0021099|ICD10:L01 owl:Class MONDO:0002922 biolink:NamedThing pyoderma Any skin disease that is pyegenic. mondoexuq1wtf ICD9:686.00|DOID:4223|ICD9:686.0|ICD10:L08.0|ICD9:686.09|UMLS:C0034212|SCTID:70759006|COHD:133547|MESH:D011711 owl:Class MONDO:0033968 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome mondoexuq1wtf Orphanet:529977 owl:Class MONDO:0005365 biolink:NamedThing hearing loss disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. mondoexuq1wtf hearing impairment|loss of hearing|hearing loss|hypoacuses|loss, hearing|deafness|hypoacusis SCTID:15188001|ICD9:389.8|UMLS:C1384666|ICD9:389|NCIT:C35731|COHD:377889|ICD10:H90|ICD9:389.9|EFO:0004238|MESH:D034381 owl:Class MONDO:0004273 biolink:NamedThing breast apocrine adenoma A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia. mondoexuq1wtf breast apocrine adenoma|apocrine adenoma of breast NCIT:C40383|DOID:7540|UMLS:C1388299 owl:Class MONDO:0002058 biolink:NamedThing breast adenoma A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma. mondoexuq1wtf breast adenoma|Ademoma - breast DOID:1625|UMLS:C1328385|NCIT:C40382 owl:Class MONDO:0018657 biolink:NamedThing pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome mondoexuq1wtf CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA|CAPOK OMIM:618373|UMLS:CN237716|Orphanet:447961 owl:Class MONDO:0019288 biolink:NamedThing skin pigmentation disease A pigmentation disease that involves the zone of skin. mondoexuq1wtf pigmentation anomaly of the skin|pigmentation disease of zone of skin|zone of skin pigmentation disease|pigmentation disease ICD9:709.09|EFO:1000755|Orphanet:79374|MESH:D010859|DOID:10123 owl:Class MONDO:0018591 biolink:NamedThing ITM2B amyloidosis mondoexuq1wtf familial cerebral amyloid angiopathy|ITM2B-related amyloidosis|ITM2B-related cerebral amyloid angiopathy ICD10:I68.0*|ICD10:E85.4+|SCTID:45639009|UMLS:CN237622|Orphanet:439254|ICD9:277.39 owl:Class MONDO:0018634 biolink:NamedThing hereditary amyloidosis Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. mondoexuq1wtf hereditary amyloidosis (disease)|amyloidosis hereditary|amyloidosis, Familial|familial amyloidosis Orphanet:444116|UMLS:C0206246|MESH:D028226|SCTID:367601000119103|NCIT:C84555|GARD:0006611 https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis owl:Class MONDO:0019572 biolink:NamedThing autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). mondoexuq1wtf autosomal recessive cutis laxa with severe systemic involvement|autosomal recessive cutis laxa type 1|ARCL1|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa, pulmonary emphysema type|cutis laxa, type 1|autosomal recessive cutis laxa type I MESH:C536225|GARD:8480|ICD10:Q82.8|SCTID:254222002|PMID:19401719|GARD:0008480|UMLS:CN206407|Orphanet:90349|DOID:0070144 owl:Class MONDO:0005385 biolink:NamedThing vascular disease A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. mondoexuq1wtf vasculature disease|vascular tissue disease|disease or disorder of vasculature|disease of vasculature|vasculature disease or disorder|vascular disorder|disorder of vasculature DOID:178|ICD9:442.9|EFO:0004264|SCTID:27550009|MESH:D014652|ICD10:I72.9|NCIT:C35117|UMLS:C0042373 owl:Class MONDO:0010392 biolink:NamedThing glycogen storage disease due to phosphoglycerate kinase 1 deficiency Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. mondoexuq1wtf PGK deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|Pgk1 deficiency|GSD due to phosphoglycerate kinase 1 deficiency|PGK1 glycogen storage disease|PHOSPHOGLYCERATE KINASE 1 deficiency|glycogen storage disease caused by mutation in PGK1|Phosphoglycerate kinase deficiency MESH:C567067|Orphanet:713|GARD:0007389|ICD10:E74.0|UMLS:C1970848|OMIM:300653|NCIT:C126738 owl:Class MONDO:0002412 biolink:NamedThing glycogen storage disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. mondoexuq1wtf GSD|glycogenosis|glycogenoses|glycogen storage disease|glycogen metabolism disorder|rare inborn error of glycogen metabolic process|inborn glycogen storage disorder|inborn glycogen metabolic process disorder|glycogen storage disorder|inborn error of glycogen metabolic process ICD9:271.0|UMLS:C0017919|ICD10:E74.00|ICD10:E74.0|MESH:D006008|DOID:0050728|SCTID:29633007|NCIT:C61272|COHD:434003|MedDRA:10061990|Orphanet:79201|DOID:2747 owl:Class MONDO:0021180 biolink:NamedThing acquired xanthinuria Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy. mondoexuq1wtf acquired xanthinuria owl:Class MONDO:0000721 biolink:NamedThing xanthinuria A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. mondoexuq1wtf ICD9:277.2|SCTID:190919008 owl:Class MONDO:0007120 biolink:NamedThing aniridia-absent patella syndrome Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. mondoexuq1wtf aniridia absent patella|aniridia and absent patella|familial syndrome of aniridia and absence of the patella ICD10:Q87.8|MESH:C566281|Orphanet:1069|GARD:0000685|OMIM:106220|UMLS:C1862868 https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella owl:Class MONDO:0020148 biolink:NamedThing syndromic aniridia A aniridia that is part of a larger syndrome. mondoexuq1wtf syndromic aniridia|syndrome associated with aniridia UMLS:CN227798|Orphanet:98557 owl:Class MONDO:0015518 biolink:NamedThing infantile bilateral striatal necrosis Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. mondoexuq1wtf SNDI|striatonigral degeneration infantile|infantile striatonigral degeneration|IBSN|infantile striatonigral necrosis|striatal degeneration familial|infantile bilateral striatal necrosis Orphanet:1576|GARD:0005040|SCTID:718174008|UMLS:C0795996|ICD10:G23.2 owl:Class MONDO:0017641 biolink:NamedThing miscellaneous movement disorder due to neurodegenerative disease mondoexuq1wtf Orphanet:306695|UMLS:CN203537 owl:Class MONDO:0017411 biolink:NamedThing neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. mondoexuq1wtf inflammatory skin and bowel disease, neonatal Orphanet:294023|OMIMPS:614328|UMLS:CN228266|DC:0000674 owl:Class MONDO:0011848 biolink:NamedThing headache associated with sexual activity mondoexuq1wtf HSA|headache associated with sexual activity|benign sexual headache ICD10:G44.82|OMIM:607504|COHD:374342 owl:Class MONDO:0002165 biolink:NamedThing rectal neoplasm A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. mondoexuq1wtf rectal tumor|rectum tumor|tumor of the rectum|rectum neoplasm|neoplasm of the rectum|rectum neoplasm (disease)|tumor of rectum|neoplasm of rectum|rectal neoplasm NCIT:C3350|MESH:D012004|SCTID:126847008|DOID:1984|UMLS:C0034885 owl:Class MONDO:0005335 biolink:NamedThing colorectal neoplasm A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. mondoexuq1wtf colorectum neoplasm (disease)|large intestine neoplasm|large intestinal neoplasm|tumor of the large bowel|colorectal tumor|large bowel tumor|colorectal neoplasm|neoplasm of colorectum|colorectum tumor|tumor of colorectum|tumor of large bowel|neoplasm of large bowel|colorectum neoplasm|large intestine tumor|neoplasm of the large bowel|large bowel neoplasm MONDO:0021236 MESH:D015179|NCIT:C2956|EFO:0004142 owl:Class MONDO:0014886 biolink:NamedThing severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome mondoexuq1wtf intellectual disability, autosomal recessive 55|mental retardation, autosomal recessive type 55|mental retardation, autosomal recessive 55|MRT55|intellectual disability, autosomal recessive type 55 Orphanet:488627|OMIM:617051|UMLS:C4310745 owl:Class MONDO:0019289 biolink:NamedThing hyperpigmentation of the skin mondoexuq1wtf COHD:4172432|HP:0000953|SCTID:49765009|ICD9:709.09|Orphanet:79375|EFO:0009047 owl:Class MONDO:0005825 biolink:NamedThing leptospirosis A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. mondoexuq1wtf infection due to Leptospira|Leptospira disease or disorder|swamp fever|Leptospira infectious disease|seven day fever|cane cutter's fever|rat catcher's yellows|Queensland fever|Weil disease|mud fever|Stuttgart disease|japanese autumnal fever|leptospirosis icterohaemorrhagica|hemorrhagic jaundice|canicola fever|rice-field worker's disease|swineherd's disease|Leptospira caused disease or disorder|nanukayami fever|harvest fever|cane-cutter fever|Icterohemorrhagic fever|leptospirosis|spirochetal jaundice|rice-field fever|fort Bragg fever MESH:D007922|NCIT:C84825|Orphanet:509|ICD9:100.0|ICD9:100.89|GARD:0007881|UMLS:C0023364|ICD9:100.9|SCTID:77377001|ICD10:A27|EFO:0007344|ICD10:A27.0|MedDRA:10024238|ICD10:A27.9|ICD10:A27.8|DOID:2297|COHD:432246|ICD9:100 https://rarediseases.info.nih.gov/diseases/7881/leptospirosis owl:Class MONDO:0000314 biolink:NamedThing primary bacterial infectious disease mondoexuq1wtf DOID:0050338 owl:Class MONDO:0100035 biolink:NamedThing structural epilepsy Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. mondoexuq1wtf 2018-06-23 19:24:32+00:00 owl:Class MONDO:0005027 biolink:NamedThing epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. mondoexuq1wtf seizure disorder EFO:0000474|NIFSTD:birnlex_12718|NCIT:C3020|SCTID:84757009|ICD9:345.90|ICD10:G40|ICD9:345|ICD10:G40.9|ICD10:G40.909|ICD9:345.80|DOID:1826|ICD9:345.9|ICD9:345.91|ICD9:345.8|MESH:D004827|COHD:380378 owl:Class MONDO:0014661 biolink:NamedThing epidermolysis bullosa simplex with nail dystrophy mondoexuq1wtf epidermolysis bullosa simplex with nail dystrophy|EBSND UMLS:C4225309|OMIM:616487 owl:Class MONDO:0015081 biolink:NamedThing neuroendocrine tumor with other location mondoexuq1wtf Editor note: consider obsoleting Orphanet:100101|UMLS:CN197376 owl:Class MONDO:0019496 biolink:NamedThing neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). mondoexuq1wtf neuroendocrine tumor|APUDoma|neuroendocrine neoplasm Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass EFO:1001901|ICD10:D3A.8|UMLS:C0206754|DOID:169|NCIT:C3809|ICD9:209|UMLS:C0003650|ICD9:209-209.99|COHD:434300|Orphanet:877|SCTID:255046005|UMLS:CN206284|MESH:D018358|ICD9:239.7 owl:Class MONDO:0005440 biolink:NamedThing embryonal carcinoma A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). mondoexuq1wtf carcinoma, embryonal, malignant|primary extragonadal embryonal carcinoma|embryonal carcinoma Editor note: TODO check classification w.r.t carcinoma MESH:D018236|EFO:0004986|ONCOTREE:EMBCA|GARD:0005140|ICD10:C71.9|Orphanet:180226|UMLS:C0206659|NCIT:C3752|DOID:3308|ICDO:9070/3|ICD10:C22.7 https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma owl:Class MONDO:0003578 biolink:NamedThing extragonadal nonseminomatous germ cell tumor A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. mondoexuq1wtf malignant tumor of the extragonadal non-seminomatous germ cell|malignant extragonadal Nonseminoma|malignant tumor of extragonadal non-seminomatous germ cell|cancer of extragonadal non-seminomatous germ cell|cancer of the extragonadal non-seminomatous germ cell|extragonadal primary Nonseminoma|malignant neoplasm of the extragonadal non-seminomatous germ cell|extragonadal non-seminomatous germ cell cancer|primary malignant extragonadal Nonseminoma|malignant neoplasm of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell tumor|malignant extragonadal non-seminomatous germ cell neoplasm UMLS:C1334582|NCIT:C8885|DOID:5677 owl:Class MONDO:0012693 biolink:NamedThing glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. mondoexuq1wtf GSD type 0b|muscle glycogen synthase deficiency|glycogenosis type 0b|glycogenosis due to muscle and heart glycogen synthase deficiency|GSD0B|glycogen storage disease type 0b|GSD 0B|GSD due to muscle and heart glycogen synthase deficiency|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of heart|glycogen storage disease 0, muscle|muscle glycogen storage disease 0|glycogen storage disease type 0, muscle UMLS:C1969054|OMIM:611556|SCTID:725027004|Orphanet:137625|MESH:C566917|GARD:0010760|ICD10:E74.0 owl:Class MONDO:0017693 biolink:NamedThing glycogen storage disease due to glycogen synthase deficiency mondoexuq1wtf glycogenosis due to glycogen synthase deficiency|GSD0|glycogen storage disease type 0|GSD due to glycogen synthase deficiency UMLS:CN203589|ICD10:E74.0|Orphanet:308520 owl:Class MONDO:0019132 biolink:NamedThing spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome mondoexuq1wtf ICD10:G12.8|Orphanet:73245|UMLS:CN205656 owl:Class MONDO:0016113 biolink:NamedThing bulbospinal muscular atrophy mondoexuq1wtf spinal and bulbal muscular atrophy|spinal-bulbar muscular atrophy|bulbospinal muscular atrophy|SBMA SCTID:230253001|Orphanet:206701|ICD10:G12.2 owl:Class MONDO:0018953 biolink:NamedThing parietal foramina Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. mondoexuq1wtf enlarged parietal foramina|fenestrae parietales symmetricae|Caitlin marks|foramina parietalia permagna|hereditary cranium bifidum|catlin marks|symmetric parietal foramina Orphanet:60015|DOID:0060285|HP:0002697|ICD10:Q75.8|MESH:C566826|SCTID:718099006|OMIMPS:168500 owl:Class MONDO:0020018 biolink:NamedThing cranial malformation mondoexuq1wtf Orphanet:98038 owl:Class MONDO:0015212 biolink:NamedThing syndromic intestinal malformation A intestinal malformation that is part of a larger syndrome. mondoexuq1wtf syndrome associated with intestinal malformation|syndromic intestinal malformation UMLS:CN226629|Orphanet:108969 owl:Class MONDO:0003831 biolink:NamedThing type 2 papillary adenoma of the kidney mondoexuq1wtf type 2 papillary adenoma of the kidney|type 2 renal papillary adenoma DOID:6259|NCIT:C39810|UMLS:C1519710 owl:Class MONDO:0003829 biolink:NamedThing chromophil adenoma of the kidney A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. mondoexuq1wtf papillary adenoma of the kidney|chromophil adenoma of the kidney|renal papillary adenoma NCIT:C3687|DOID:6257|UMLS:C1518879 owl:Class MONDO:0004133 biolink:NamedThing pituitary gland mixed eosinophil-basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. mondoexuq1wtf mixed acidophil-basophil adenoma (morphologic abnormality)|mixed eosinophil-basophil adenoma|pituitary gland mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma DOID:7179|NCIT:C4148|ICDO:8281/0|UMLS:C0334312 owl:Class MONDO:0006373 biolink:NamedThing pituitary gland adenoma A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. mondoexuq1wtf adenoma of the pituitary gland|pituitary adenoma|adenoma of the pituitary|adenoma of pituitary|adenoma of pituitary gland|adenoma, anterior lobe pituitary gland, benign|PTAD|pituitary gland adenoma ICD10:D35.2|SCTID:254956000|UMLS:C0032000|DOID:3829|ONCOTREE:PTAD|EFO:1000478|Orphanet:99408|NCIT:C3329|MedDRA:10035079|ICDO:8272/0 owl:Class MONDO:0000044 biolink:NamedThing hereditary hypophosphatemic rickets Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. mondoexuq1wtf hereditary hypophosphatemic rickets OMIMPS:193100|MedDRA:10060873|GARD:0006735|ICD10:E83.3|DC:0000215|Orphanet:437 https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets owl:Class MONDO:0024300 biolink:NamedThing hypophosphatemic rickets Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. mondoexuq1wtf vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|rickets, vitamin D resistant|hypophosphatemic rickets|acquired vitamin D resistant rickets|acquired vitamin D-resistant rickets|rickets, vitamin D-resistant|hypophosphatemic vitamin D-resistant rickets|Ricket, hypophosphatemic|hypophosphatemic Ricket|hypophosphatemia, vitamin D-resistant rickets|Phosphopenic rickets NCIT:C131449|MESH:D063730 owl:Class MONDO:0011088 biolink:NamedThing congenital myasthenic syndrome 1A Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. mondoexuq1wtf myasthenic syndrome, congenital, 1A, slow-channel|CHRNA1 congenital myasthenic syndrome|CMS1A|myasthenic syndrome, congenital, type IIa, formerly|congenital myasthenic syndrome type 1A|congenital myasthenic syndrome type IIa|myasthenic syndrome, congenital, type IIa|Cms IIa|congenital myasthenic syndrome caused by mutation in CHRNA1|Cms IIa, formerly|congenital myasthenic syndrome 1A, slow-channel|CMS IIa OMIM:601462|DOID:0110663 owl:Class MONDO:0020344 biolink:NamedThing postsynaptic congenital myasthenic syndrome mondoexuq1wtf postsynaptic congenital myasthenic syndromes ICD10:G70.2|Orphanet:98913 owl:Class MONDO:0019688 biolink:NamedThing sulfation-related bone disorder mondoexuq1wtf Orphanet:93423|UMLS:CN227674 owl:Class MONDO:0015779 biolink:NamedThing 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. mondoexuq1wtf Mixed gonadal dysgenesis|45,X0/46,XY MGD|45,X/46,XY MGD|45,X/46,XY disorder of Sex development|XY/X0|45,X/46,XY gonadal dysgenesis|45,X0/46,XY mixed gonadal dysgenesis NCIT:C120199|Orphanet:1772|ICD10:Q98.7|DOID:0080656 owl:Class MONDO:0017975 biolink:NamedThing sex chromosome disorder of sex development Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. mondoexuq1wtf Sex chromosome DSD MESH:D058533|Orphanet:325546 owl:Class MONDO:0032808 biolink:NamedThing developmental and epileptic encephalopathy, 77 mondoexuq1wtf epileptic encephalopathy, early infantile, 77|DEE77|glycosylphosphatidylinositol biosynthesis defect 19|EIEE77|multiple congenital anomalies-hypotonia-seizures syndrome 4 OMIM:618548 owl:Class MONDO:0100247 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome mondoexuq1wtf http://orcid.org/0000-0001-5208-3432 OMIMPS:614080 owl:Class MONDO:0003924 biolink:NamedThing adrenal cortex adenoma A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) mondoexuq1wtf benign adenoma of adrenal gland|adrenal gland adenoma|adenoma of the adrenal cortex|benign adrenal gland adenoma|adenoma, adrenocortical, benign|adrenal cortex adenoma|adenoma of adrenal cortex|adenoma of the adrenal gland|adrenocortical adenoma|adrenal incidentaloma|adenoma of adrenal gland|adrenal adenoma|adrenal cortical adenoma|benign adenoma of the adrenal gland|benign adrenal adenoma|cortical cell adenoma MONDO:0005248 GARD:0005745|HP:0008256|ICDO:8370/0|NCIT:C9003|EFO:0003104|ONCOTREE:ACA|SCTID:302826002|UMLS:C0206667|MESH:D018246|Orphanet:463|HP:0008196|DOID:0050891|DOID:656 owl:Class MONDO:0036591 biolink:NamedThing adrenal cortex neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) mondoexuq1wtf adrenocortical tumor|adrenocortical neoplasm|neoplasm of adrenal cortex|tumor of adrenal cortex|adrenal cortex tumor|adrenal cortex neoplasm NCIT:C2858 owl:Class MONDO:0000358 biolink:NamedThing orofacial cleft mondoexuq1wtf Editor notes: most subtypes are isolated UMLS:CN221583|OMIMPS:119530|SCTID:449790007|DOID:0050567 owl:Class MONDO:0019920 biolink:NamedThing paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. mondoexuq1wtf UPD(5)pat|paternal uniparental disomy of chromosome type 5 ICD10:Q99.8|Orphanet:96190 owl:Class MONDO:0020057 biolink:NamedThing uniparental disomy of paternal origin mondoexuq1wtf SCTID:726402006|Orphanet:98154|ICD10:Q99.8 owl:Class MONDO:0004095 biolink:NamedThing B-cell neoplasm A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. mondoexuq1wtf B-cell lymphoma|B-cell neoplasm|lymphoma, B-cell|B-cell lymphocytic neoplasm NCIT:C27907|GARD:0005877|MESH:D016393|DOID:707 https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma owl:Class MONDO:0005062 biolink:NamedThing lymphoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. mondoexuq1wtf lymphomatous|lymphoid cancer|lymphoma, malignant|MLYM|lymphoma|lymphoma (Hodgkin and non-Hodgkin)|lymphoma (Hodgkin's and non-Hodgkin's)|malignant lymphoma This is potentially too broad as well as overlaps with leukemia and should be obsoleted. Orphanet:223735|SCTID:118600007|UMLS:C0024299|ICD9:202.80|ICD10:C85.9|MESH:D008223|ONCOTREE:MLYM|GARD:0011955|COHD:432571|MedDRA:10025310|ICD9:200.1|NCIT:C3208|EFO:0000574|ICDO:9590/3|ICD9:200.0|DOID:0060058 owl:Class MONDO:0016593 biolink:NamedThing acquired ataxia A type of ataxia that is acquired during the lifetime of the individual. mondoexuq1wtf acquired ataxia SCTID:722968003|Orphanet:247242 owl:Class MONDO:0100308 biolink:NamedThing atactic disorder A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. mondoexuq1wtf ataxia|ataxic disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011121 biolink:NamedThing paragangliomas 2 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. mondoexuq1wtf SDHAF2 paraganglioma|PGL2|paragangliomas 2|paraganglioma caused by mutation in SDHAF2|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|glomus tumors, familial, 2|paragangliomas type 2 OMIM:601650|MESH:C566646|GARD:0010544 https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2 owl:Class MONDO:0000448 biolink:NamedThing paraganglioma A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. mondoexuq1wtf paraganglion tumor|paragangliomas|neoplasm of paraganglion|tumor of the paraganglion|Paraganglionic tumor|tumor of paraganglion|paraganglioma|paraganglion neoplasm|chemodectoma|neoplasm of the paraganglion|Paraganglionic neoplasm MESH:D010235|EFO:1000453|UMLS:C0030421|ICD9:239.7|ICDO:8680/1|NCIT:C3308|SCTID:127027008|DOID:0050773|ONCOTREE:PGNG|OMIMPS:168000 owl:Class MONDO:0007270 biolink:NamedThing cardiomyopathy, familial restrictive, 1 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. mondoexuq1wtf TNNI3 familial isolated restrictive cardiomyopathy|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|Rcm|cardiomyopathy, familial restrictive, 1|cardiomyopathy, familial restrictive, type 1|RCM1 OMIM:115210|MESH:C566168|UMLS:C1861861|DOID:0111425 owl:Class MONDO:0019150 biolink:NamedThing familial isolated restrictive cardiomyopathy Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. mondoexuq1wtf familial or idiopathic restrictive cardiomyopathy Orphanet:75249|ICD10:I42.5|UMLS:CN205687 owl:Class MONDO:0013908 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 3 mondoexuq1wtf thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3 OMIM:614834 owl:Class MONDO:0019201 biolink:NamedThing thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. mondoexuq1wtf thyrotoxic hypokalemic periodic paralysis MedDRA:10043788|GARD:0010814|ICD10:G72.3|UMLS:C0268446|OMIMPS:188580|Orphanet:79102|SCTID:30967002|DC:0000438 https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis owl:Class MONDO:0011053 biolink:NamedThing intellectual disability-sparse hair-brachydactyly syndrome Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. mondoexuq1wtf Nicolaides-Baraitser syndrome|NBs|NCBRS|sparse hair and mental retardation|NICOLAIDES-Baraitser syndrome|sparse hair and intellectual disability GARD:0000270|Orphanet:3051|MESH:C536116|SCTID:401046009|UMLS:C1303073|OMIM:601358 owl:Class MONDO:0009303 biolink:NamedThing anti-glomerular basement membrane disease Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. mondoexuq1wtf Goodpasture syndrome|pulmonary renal syndrome|anti-glomerular basement membrane disease|glomerulonephritis - pulmonary hemorrhage|anti-GBM syndrome|rapidly progressive glomerulonephritis with pulmonary hemorrhage|anti-glomerular basement membrane antibody disease ICD10:N08.5*|DOID:9808|ICD10:M31.0+|GARD:0002551|EFO:0007290|ICD9:446.21|MESH:D019867|ICD10:M31.0|OMIM:233450|NCIT:C84566|SCTID:236432001|UMLS:C0403529|MedDRA:10018620|Orphanet:375 https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome owl:Class MONDO:0015490 biolink:NamedThing predominantly small-vessel vasculitis mondoexuq1wtf Orphanet:156146 owl:Class MONDO:0009593 biolink:NamedThing spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. mondoexuq1wtf lethal metaphyseal dysplasia|metaphyseal chondrodysplasia, congenital lethal|SMDS|spondylometaphyseal dysplasia, Sedaghatian type|spondylometaphyseal dysplasia Sedaghatian type|Sedaghatian chondrodysplasia MESH:C535798|UMLS:C1855229|ICD10:Q77.8|Orphanet:93317|GARD:0004993|OMIM:250220 https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type owl:Class MONDO:0016763 biolink:NamedThing spondylometaphyseal dysplasia Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. mondoexuq1wtf OMIMPS:184255|ICD10:Q77.8|Orphanet:254|DC:0000598 owl:Class MONDO:0100311 biolink:NamedThing sensory ataxia Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction. mondoexuq1wtf http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016985 biolink:NamedThing nevus of Ito Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter. mondoexuq1wtf Nevus fuscocaeruleus acromiodeltoideus|hypomelanosis of Ito|nevi of Ito|Ito's Nevus Orphanet:263432|NCIT:C7582|UMLS:C0022283|UMLS:CN202288|EFO:1000395|GARD:0010830|ICD10:D22.6 owl:Class MONDO:0005073 biolink:NamedThing melanocytic nevus A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. mondoexuq1wtf mole|melanotic Nevus|melanocytic Nevus|nevus|mole of skin SCTID:400096001|Wikipedia:Nevus|MESH:D009506|COHD:4271013|EFO:0000625|NCIT:C7570 owl:Class MONDO:0019705 biolink:NamedThing primary bone dysplasia with defective bone mineralization mondoexuq1wtf primary skeletal dysplasia with defective bone mineralization|primary osteodysplasia with defective bone mineralization Orphanet:93447 owl:Class MONDO:0006679 biolink:NamedThing bladder neck obstruction Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. mondoexuq1wtf obstruction of bladder neck or vesicourethral orifice SCTID:399072004|MedDRA:10005053|EFO:1000840|UMLS:C0005694|ICD9:596.0|DOID:13948|COHD:433813|MESH:D001748|ICD10:N32.0 owl:Class MONDO:0006026 biolink:NamedThing urinary bladder disease A disease involving the urinary bladder. mondoexuq1wtf disorder of urinary bladder|disease or disorder of urinary bladder|bladder disorder|disease of urinary bladder|urinary bladder disease|urinary bladder disorder|urinary bladder disease or disorder|bladder disease ICD9:596.8|UMLS:C0005686|EFO:1000018|MESH:D001745|SCTID:42643001|COHD:201337|DOID:365|NCIT:C2900|ICD9:596.9|ICD10:N32.9 owl:Class MONDO:0017746 biolink:NamedThing atypical Rett syndrome Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT). mondoexuq1wtf atypical RTT|Rett syndrome variant|Rett like syndrome GARD:0004694|UMLS:C2748910|ICD10:F84.2|Orphanet:3095|SCTID:718393002 owl:Class MONDO:0002782 biolink:NamedThing cranial nerve palsy Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. mondoexuq1wtf cranial nerve palsy|cranial nerve paralysis|cranial nerve palsies UMLS:C0151311|NCIT:C26941|DOID:3817 owl:Class MONDO:0003569 biolink:NamedThing cranial nerve neuropathy A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. mondoexuq1wtf cranial nerve disease|disorder of cranial neuron projection bundle|cranial neuropathy|disease or disorder of cranial neuron projection bundle|disease of cranial neuron projection bundle|cranial nerve disorder|cranial neuron projection bundle disease|cranial neuron projection bundle disease or disorder|disorder of cranial nerve ICD9:352.9|UMLS:C0010266|MESH:D003389|COHD:441848|NCIT:C26733|DOID:5656|SCTID:73013002|ICD10:G52.9 owl:Class MONDO:0017543 biolink:NamedThing zygodactyly type 2 mondoexuq1wtf Zygodactyly, Lueken type|SD1b|syndactyly type 1b|SD1, Lueken type|syndactyly type 1, Lueken type ICD10:Q70.1|Orphanet:295189|ICD10:Q70.0|ICD10:Q70.2|UMLS:CN203275|ICD10:Q70.3 owl:Class MONDO:0008512 biolink:NamedThing syndactyly type 1 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. mondoexuq1wtf chromosome 2q35 DUPLICATION syndrome|syndactyly, type 1|SDTY1|Sd1|craniosynostosis, Philadelphia type|Zygodactyly OMIM:185900|Orphanet:93402|SCTID:715723008|UMLS:C4275033|ICD10:Q70.1|ICD10:Q70.0|UMLS:C1861380|ICD10:Q70.2|ICD10:Q70.3|GARD:0005081 owl:Class MONDO:0014575 biolink:NamedThing Singleton-Merten syndrome 2 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. mondoexuq1wtf singleton-Merten syndrome 2|SGMRT2|DDX58 singleton-Merten dysplasia|singleton-Merten syndrome type 2|singleton-Merten dysplasia caused by mutation in DDX58 OMIM:616298|UMLS:C4225380 owl:Class MONDO:0008429 biolink:NamedThing singleton-Merten dysplasia Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). mondoexuq1wtf SM syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|SGMRT1|singleton Merten syndrome|Merten-singleton syndrome|widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|singleton-Merten syndrome UMLS:C0432254|ICD10:Q78.8|DC:0000703|OMIMPS:182250|SCTID:254114000|Orphanet:85191|ICD9:733.29|GARD:0000122|MESH:C537343 owl:Class MONDO:0011140 biolink:NamedThing benign familial neonatal-infantile seizures Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. mondoexuq1wtf seizures, benign familial infantile, 1|BFNIS|convulsions, benign familial infantile, 1|benign familial infantile convulsions|BFIS1|benign neonatal-infantile epilepsy|convulsions benign familial neonatal|epilepsy, benign neonatal-infantile MedDRA:10067866|Orphanet:140927|ICD10:G40.4|GARD:0001518 owl:Class MONDO:0017615 biolink:NamedThing benign familial infantile epilepsy Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. mondoexuq1wtf seizures, benign familial infantile|BFIE|BFIC|benign familial infantile convulsions|benign familial infantile seizures|benign familial infantile convulsion|BFIS DOID:0060169|UMLS:CN203492|ICD10:G40.3|SCTID:230410004|GARD:0000857|ICD9:V17.2|OMIMPS:601764|Orphanet:306 owl:Class MONDO:0700089 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 1 Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene. mondoexuq1wtf choreoathetosis, nonkinesigenic|paroxysmal dystonic choreoathetosis|mount-reback syndrome|paroxysmal nonkinesigenic dyskinesia type 1|choreoathetosis, familial paroxysmal|paroxysmal dyskinesia caused by mutation in PNKD|PNKD1|PNKD paroxysmal dyskinesia|dystonia 8|paroxysmal nonkinesigenic dyskinesia 1|PxMD-PNKD http://orcid.org/0000-0002-4142-7153 GARD:0008722|OMIM:118800|MedDRA:10065657|DOID:0090049|MedDRA:10065658|ICD10:G24.8 owl:Class MONDO:0700088 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. mondoexuq1wtf DYT-MR-1|paroxysmal non-kinesigenic dyskinesia|Paroxysomal nonkinesigenic dyskinesia|Paroxystic non-kinesigenic choreoathetosis http://orcid.org/0000-0002-4142-7153 GARD:0008722|Orphanet:98810 owl:Class MONDO:0008491 biolink:NamedThing stiff-person syndrome Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. mondoexuq1wtf Stiff person syndrome and related disorders|SPS|Stiff Person syndrome|Stiff-trunk syndrome|Stiff-man syndrome|STIFF-PERSON syndrome|stiff-person syndrome|SMS|Stiff man syndrome|Stiff-Man syndrome|Moersch-Woltman syndrome|progressive encephalomyelitis with rigidity|stiff man syndrome|Morsch Woltman syndrome EFO:0007498|NCIT:C85170|GARD:0005023|ICD10:G25.8|MedDRA:10042044|OMIM:184850|MESH:D016750|SCTID:5217008|ICD10:G25.82|DOID:13366|COHD:379008|UMLS:C0085292|Orphanet:3198|ICD9:333.91 owl:Class MONDO:0016290 biolink:NamedThing Hernández-Aguirre Negrete syndrome Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. mondoexuq1wtf intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability|Ehlers-Danlos syndrome with progeroid facies and mild mental retardation MONDO:0022314|SCTID:721146009|GARD:0003491|MESH:C538112|Orphanet:2139|ICD10:Q87.8 owl:Class MONDO:0019956 biolink:NamedThing encephalitis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. mondoexuq1wtf brain inflammation Editor note: consider merging with brain inflammation Orphanet:97275|DOID:9588|MESH:D004660|UMLS:C0014038|ICD9:323.9|SCTID:45170000|NCIT:C26760|ICD9:323.8|ICD9:323.0|MedDRA:10014581|ICD10:A85 owl:Class MONDO:0010526 biolink:NamedThing Fabry disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. mondoexuq1wtf Alpha-galactosidase A deficiency|Gla deficiency|alpha galactosidase deficiency|angiokeratoma, diffuse|deficiency of melibiase|angiokeratoma corporis diffusum|Fabry's disease|Anderson-Fabry disease|diffuse angiokeratoma|Fabry disease|Fabry disease, Cardiac variant|Fd|hereditary dystopic lipidosis|ceramide trihexosidase deficiency MedDRA:10016016|MESH:D000795|UMLS:C0002986|ICD10:E75.2|GARD:0006400|ICD10:E75.21|OMIM:301500|Orphanet:324|DOID:14499|SCTID:16652001|NCIT:C84701 owl:Class MONDO:0020127 biolink:NamedThing genetic peripheral neuropathy Genetic peripheral neuropathy. mondoexuq1wtf genetic peripheral neuropathy Orphanet:98497 owl:Class MONDO:0021089 biolink:NamedThing peripheral nervous system cancer Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location mondoexuq1wtf malignant peripheral nervous system tumor|malignant neoplasm of the peripheral nervous system|malignant PNS neoplasm|malignant tumor of the peripheral nervous system|malignant neoplasm of PNS|cancer of peripheral nervous system|malignant tumor of peripheral nerve|malignant neoplasm of peripheral nervous system|malignant neoplasm of the PNS|malignant tumor of peripheral nervous system|malignant peripheral nervous system neoplasm|malignant tumor of PNS|peripheral nervous system neoplasms, malignant|malignant tumor of the peripheral nerve|peripheral nervous system cancer|malignant neoplasm of the peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of peripheral nerve|malignant neoplasms, peripheral nerve|malignant tumor of the PNS|malignant peripheral nerve neoplasm|malignant PNS tumor NCIT:C4961|SCTID:254986007|ICD9:171.9|UMLS:C0751428 owl:Class MONDO:0019666 biolink:NamedThing spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. mondoexuq1wtf spondyloepimetaphyseal dysplasia, Pakistani type|BCYM4|SEMD, Pakistani type|spondyloepimetaphyseal dysplasia Pakistani type|brachyolmia type 4 with mild epiphyseal and metaphyseal changes|spondylodysplasia and premature pubarche ICD10:Q77.7|DOID:0050812|Orphanet:93282|SCTID:719172003|OMIM:612847 owl:Class MONDO:0003537 biolink:NamedThing precursor T-lymphoblastic lymphoma/leukemia A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001) mondoexuq1wtf precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma ICDO:9837/3|DOID:5599|NCIT:C8694|UMLS:C1301359 owl:Class MONDO:0003538 biolink:NamedThing precursor lymphoblastic lymphoma/leukemia A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003 mondoexuq1wtf precursor lymphoid neoplasm|precursor lymphoblastic lymphoma/leukemia|precursor lymphoblastic leukemia/lymphoma UMLS:C1335469|DOID:5600|EFO:0009119|NCIT:C7055 owl:Class MONDO:0011070 biolink:NamedThing van Maldergem syndrome 1 Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene. mondoexuq1wtf van Maldergem syndrome 1|VMLDS1|VAN Maldergem syndrome 1|van Maldergem syndrome caused by mutation in DCHS1|Van Maldergem syndrome type 1|Cerebrofacioarticular syndrome|DCHS1 van Maldergem syndrome DOID:0080585|OMIM:601390 owl:Class MONDO:0017813 biolink:NamedThing van Maldergem syndrome Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. mondoexuq1wtf Van Maldergem syndrome|cerebro-facio-articular syndrome|cerebro-facio-articular syndrome of Van Maldergem|Van Maldergem Wetzburger Verloes syndrome UMLS:CN203783|GARD:0005456|DOID:0060238|OMIMPS:601390|Orphanet:314679 owl:Class MONDO:0014555 biolink:NamedThing peeling skin syndrome type A Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. mondoexuq1wtf PSS3|peeling skin syndrome 3|generalized deciduous skin type A|non-inflammatory peeling skin syndrome type A|generalized peeling skin syndrome type A|peeling skin syndrome type 3|non-inflammatory generalized peeling skin syndrome type A.|PSS type A Orphanet:263548|OMIM:616265|UMLS:C4015729|ICD10:Q80.8 owl:Class MONDO:0010033 biolink:NamedThing generalized peeling skin syndrome Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. mondoexuq1wtf PSS1|peeling skin syndrome 1|generalized deciduous skin|generalized PSS|peeling skin syndrome type 1 SCTID:718749004|UMLS:C4305156|UMLS:CN202304|GARD:0012862|ICD10:Q80.8|Orphanet:263543 owl:Class MONDO:0021483 biolink:NamedThing benign neoplasm of frontal sinus A benign neoplasm that involves the frontal sinus. mondoexuq1wtf benign tumor of the frontal sinus|benign tumor of frontal sinus|benign frontal sinus tumor|benign frontal sinus neoplasm|frontal sinus benign neoplasm|benign neoplasm of the frontal sinus NCIT:C4420|SCTID:92115005|UMLS:C0345674|ICD9:212.0 owl:Class MONDO:0001757 biolink:NamedThing frontal sinus neoplasm A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. mondoexuq1wtf frontal sinus tumor|frontal sinus neoplasm (disease)|tumor of the frontal sinus|neoplasm of the frontal sinus|neoplasm of frontal sinus|tumor of frontal sinus MONDO:0021214 NCIT:C4419|DOID:1361|UMLS:C0345672|SCTID:126678005 owl:Class MONDO:0007248 biolink:NamedThing hereditary painful callosities Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. mondoexuq1wtf callosities, painful plantar|keratosis palmoplantaris nummularis|Plamoplantar keratoderma nummularis|Plamoplantar hyperkeratosis nummularis|callosities, hereditary painful|PPK nummularis UMLS:C1861964|MESH:C566180|ICD10:Q82.8|Orphanet:79141|OMIM:114140 owl:Class MONDO:0017673 biolink:NamedThing isolated focal palmoplantar keratoderma A focal palmoplantar keratoderma that is not part of a larger syndrome. mondoexuq1wtf isolated focal palmoplantar hyperkeratosis|nonsyndromic focal palmoplantar keratoderma|isolated focal PPK|isolated focal keratosis palmoplantaris Orphanet:307846|ICD10:Q82.8 owl:Class MONDO:0013652 biolink:NamedThing narcolepsy 7 Any narcolepsy in which the cause of the disease is a mutation in the MOG gene. mondoexuq1wtf narcolepsy type 7|narcolepsy 7|MOG narcolepsy|narcolepsy caused by mutation in MOG|NRCLP7 OMIM:614250|UMLS:C3280266 owl:Class MONDO:0016158 biolink:NamedThing narcolepsy-cataplexy syndrome Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). mondoexuq1wtf paroxysmal sleep|Gélineau disease|narcolepsy-cataplexy syndrome|narcoleptic syndrome|GC)lineau disease|narcolepsy with cataplexy|Gelineau syndrome|Gelineau's syndrome ICD10:G47.419|ICD9:347.0|MedDRA:10028713|ICD10:G47.4|EFO:0000614|Orphanet:2073|GARD:0007162|ICD10:G47.41 https://rarediseases.info.nih.gov/diseases/7162/narcolepsy owl:Class MONDO:0021272 biolink:NamedThing inherited orthostatic hypotension mondoexuq1wtf OMIMPS:223360 owl:Class MONDO:0015914 biolink:NamedThing primary orthostatic hypotension Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication. mondoexuq1wtf neurogenic orthostatic hypotension Orphanet:182058|GARD:0012959 https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension owl:Class MONDO:0021049 biolink:NamedThing vulvar neoplasm A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. mondoexuq1wtf vulva neoplasm|vulval neoplasm|vulva tumor|tumor of mammalian vulva|mammalian vulva neoplasm (disease)|tumor of vulva|vulvar neoplasm|mammalian vulva neoplasm|neoplasm of vulva|tumor of the vulva|neoplasm of the vulva|vulvar tumor|neoplasm of mammalian vulva|mammalian vulva tumor ICD9:239.5|NCIT:C3443|SCTID:126922007 owl:Class MONDO:0002187 biolink:NamedThing vulvar disease A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. mondoexuq1wtf vulval disorder|vulvar disease|disorder of vulva|vulvar disorder DOID:2059|UMLS:C0042994|NCIT:C27631|MESH:D014845|SCTID:5089007 owl:Class MONDO:0001519 biolink:NamedThing entropion The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) mondoexuq1wtf entropion|entropion (disease) entropion (disease) MESH:D004774|ICD9:374.00|COHD:379020|SCTID:33168009|HP:0000621|UMLS:C0014390|DOID:12397 owl:Class MONDO:0003382 biolink:NamedThing eyelid disease A disease involving the eyelid. mondoexuq1wtf eyelid disease|disease or disorder of eyelid|disorder of eyelid|eyelid disorder|disease of eyelid|eyelid disease or disorder ICD10:H00|SCTID:60113004|DOID:530|ICD10:H02.9|MESH:D005141|ICD9:374.9|NCIT:C26768|ICD9:374.89 owl:Class MONDO:0018838 biolink:NamedThing lissencephaly spectrum disorders The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. mondoexuq1wtf macrogyria|large gyri of cerebrum|Broad gyri of cerebrum|lissencephaly|lissencephaly (disease)|pachygyria Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. ICD10:Q04.3|NCIT:C103921|GARD:0012291|GARD:0007300|HP:0001339|ICD10:Q04.8|SCTID:204036008|DOID:0050453|MedDRA:10048911|MESH:D054082|Orphanet:48471|UMLS:C0266463|OMIMPS:607432 https://github.com/monarch-initiative/mondo/issues/1312 owl:Class MONDO:0015220 biolink:NamedThing syndrome with a central nervous system malformation as major feature mondoexuq1wtf Orphanet:108991|UMLS:CN197562 owl:Class MONDO:0009797 biolink:NamedThing orotic aciduria An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. mondoexuq1wtf oroticaciduria 1|orotic aciduria without megaloblastic Anemia|OPRT and ODC deficiency|hereditary orotic aciduria|uridine monophosphate synthetase deficiency|UMP synthtase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|orotic aciduria II (formerly)|orotidylic decarboxylase deficiency|UMPS|Umps deficiency|oroticaciduria|uridine monophosphate synthase deficiency|orotic aciduria type 1|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotic aciduria|Ump synthase deficiency|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotic aciduria 1 Orphanet:30|ICD10:E79.8|OMIM:258900|SCTID:47641009|NCIT:C98944|MedDRA:10052621|DOID:0050833|GARD:0005429 owl:Class MONDO:0019238 biolink:NamedThing inborn disorder of pyrimidine metabolism ANPM mondoexuq1wtf pyrimidine metabolic disorder|disorder of pyrimidine metabolism|inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|rare inborn error of pyrimidine nucleobase metabolic process MedDRA:10070969|DOID:0050832|Orphanet:79193 owl:Class MONDO:0017561 biolink:NamedThing congenital genu flexum mondoexuq1wtf ICD10:Q68.2|Orphanet:295232 owl:Class MONDO:0006565 biolink:NamedThing juvenile dermatitis herpetiformis Dermatitis herpetiformis in children mondoexuq1wtf DOID:8507|SCTID:5906000|ICD10:L12.2|ICD9:694.2|EFO:1000719|UMLS:C0152092 owl:Class MONDO:0015614 biolink:NamedThing dermatitis herpetiformis Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. mondoexuq1wtf dermatosis herpetiformis|dermatitis herpetiformis|Duhring's disease|Durhing-Brocq disease DOID:8505|ICD9:694.0|ICD10:L13.0|MedDRA:10012468|EFO:1000684|NCIT:C26742|Orphanet:1656|COHD:140487|Wikipedia:Dermatitis_herpetiformis|MESH:D003874|SCTID:111196000|UMLS:C0011608 owl:Class MONDO:0007361 biolink:NamedThing C1 inhibitor deficiency mondoexuq1wtf complement component 4, partial deficiency OF UMLS:C1852700|OMIM:120790|DOID:0060002|ICD10:D84.1|Orphanet:459353 owl:Class MONDO:0027749 biolink:NamedThing serpinopathy mondoexuq1wtf Orphanet:250805 owl:Class MONDO:0013578 biolink:NamedThing DYRK1A-related intellectual disability syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. mondoexuq1wtf intellectual disability, autosomal dominant type 7|mental retardation, autosomal dominant 7|intellectual disability, autosomal dominant 7|autosomal dominant non-syndromic intellectual disability 7|autosomal dominant mental retardation 7|MRD7|mental retardation, autosomal dominant type 7|autosomal dominant intellectual disability 7 OMIM:614104|Orphanet:464306|DOID:0070037|UMLS:C3279839 owl:Class MONDO:0000508 biolink:NamedThing syndromic intellectual disability A intellectual disability that is part of a larger syndrome. mondoexuq1wtf syndromic intellectual disability|syndrome associated with intellectual disability DOID:0050888|UMLS:CN225415 owl:Class MONDO:0012744 biolink:NamedThing dilated cardiomyopathy 1Y Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. mondoexuq1wtf CMD1Y|left ventricular noncompaction 9|TPM1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in TPM1|cardiomyopathy, dilated, type 1Y|dilated cardiomyopathy type 1Y|cardiomyopathy, dilated, 1Y MESH:C567507|ICD10:I42.0|OMIM:611878|DOID:0110457 owl:Class MONDO:0015470 biolink:NamedThing familial isolated dilated cardiomyopathy Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia. mondoexuq1wtf familial or idiopathic dilated cardiomyopathy ICD10:I42.0|Orphanet:154|UMLS:CN199609 owl:Class MONDO:0019340 biolink:NamedThing scleroderma Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). mondoexuq1wtf Scleroderma|scleroderma (disease)|scleroderma|dermatosclerosis scleroderma (disease) MedDRA:10039710|HP:0100324|NCIT:C26746|Orphanet:801|DOID:419 owl:Class MONDO:0005964 biolink:NamedThing sphenoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. mondoexuq1wtf sphenoidal sinusitis|sphenoid bone sinusitis|sinusitis of sphenoid bone NCIT:C35031|ICD10:J32.3|UMLS:C0037886|MESH:D015524|SCTID:13266007|EFO:0007489|DOID:10794 owl:Class MONDO:0023369 biolink:NamedThing disease of facial skeleton A disease that involves the facial skeleton. mondoexuq1wtf disease of facial skeleton|maxillofacial anomaly|maxillo-facial disease|disorder of facial skeleton|facial skeleton disease or disorder|disease or disorder of facial skeleton|facial skeleton disease owl:Class MONDO:0008778 biolink:NamedThing amyloidosis, cutaneous bullous mondoexuq1wtf amyloidosis, cutaneous bullous ICD9:277.39|SCTID:38606009|OMIM:204900|UMLS:C0268399|MESH:C562644 owl:Class MONDO:0003909 biolink:NamedThing Bartholin gland adenomyoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. mondoexuq1wtf major vestibular gland adenomyoma|adenomyoma of major vestibular gland|Bartholin gland adenomyoma NCIT:C40300|UMLS:C1511049|DOID:6518 owl:Class MONDO:0002193 biolink:NamedThing Bartholin gland benign neoplasm A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. mondoexuq1wtf tumor of Bartholin's gland|major vestibular gland benign neoplasm|Bartholin gland neoplasm DOID:2068|SCTID:189130001 owl:Class MONDO:0010265 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. mondoexuq1wtf SGBS2|lethal variant of Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome, type 2|Sgbs2|OFD1 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1 OMIM:300209|Orphanet:79022|ICD10:Q87.3|UMLS:C1846175|DOID:0080342|MESH:C564567 owl:Class MONDO:0010731 biolink:NamedThing Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. mondoexuq1wtf SGB syndrome|dysplasia gigantism syndrome, X-linked|Sara Angers syndrome|X-linked dysplasia gigantism syndrome|SGBS|SDYS|Golabi-Rosen syndrome|DGSX|Sgbs NCIT:C131002|GARD:0007649|MESH:C537340|SCTID:439143004|ICD9:759.89|ICD10:Q87.3|Orphanet:373 https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome owl:Class MONDO:0012727 biolink:NamedThing mucocutaneous lymph node syndrome Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. mondoexuq1wtf acute febrile mucocutaneous lymph node syndrome [MCLS]|infantile polyarteritis nodosa|infantile polyarteritis|MLNS|Kawasaki disease|Kd|mucocutaneous lymph node syndrome|Kawasaki's disease|acute febrile mucocutaneous lymph node syndrome|acute febrile MCLS|Kawasaki syndrome ICD10:M30.3|Orphanet:2331|GARD:0006816|DOID:13378|OMIM:611775|MESH:D009080|NCIT:C34825|EFO:0004246|UMLS:C0026691|SCTID:75053002|MedDRA:10023320|ICD9:446.1 owl:Class MONDO:0002052 biolink:NamedThing lymphadenitis Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. mondoexuq1wtf adenitis|chronic adenitis|lymph nodeitis|lymphadenitis|chronic lymphadenitis|lymphadenitis (disease)|inflammation of lymph node|Inflammation of lymph node|lymph node inflammation|lymph gland infection|acute adenitis|acute lymphadenitis lymphadenitis (disease) ICD10:L04.9|ICD9:289.1|UMLS:C0157705|ICD10:I88.1|SCTID:41174002|HP:0002840|DOID:1602|UMLS:C0154304|UMLS:C0024205|ICD10:L04|ICD10:I88.9|MESH:D008199|ICD9:683|NCIT:C26821 owl:Class MONDO:0013125 biolink:NamedThing CLAPO syndrome CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). mondoexuq1wtf Lopez-Gutierrez syndrome|capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Clapo SCTID:717765001|MESH:C567763|ICD10:Q87.3|Orphanet:168984|UMLS:C2751313|OMIM:613089 owl:Class MONDO:0019716 biolink:NamedThing overgrowth syndrome A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. mondoexuq1wtf UMLS:CN206621|UMLS:C2986703|Orphanet:93460|NCIT:C94828|ICD10:Q87.3 owl:Class MONDO:0011861 biolink:NamedThing breath-holding Spells mondoexuq1wtf breath-holding Spells|Bhs OMIM:607578 owl:Class MONDO:0010549 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. mondoexuq1wtf X-linked Charcot-Marie-Tooth disease type 1|GJB1 Charcot-Marie-Tooth disease type X|HMSN, X-linked|CMT2, formerly|Charcot-Marie-Tooth neuropathy X-linked dominant 1|CMTX|Charcot Marie Tooth disease X-linked 1|CMTX1|hereditary motor and sensory neuropathy, X-linked|Charcot-Marie-Tooth disease X-linked dominant type 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|Charcot-Marie-Tooth neuropathy, X-linked, 1|CMT2|CMT1X|Charcot-Marie-Tooth disease, X-linked dominant, type 1|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth disease, X-linked, 1|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|CMTX 1|Charcot-Marie-Tooth disease, X-linked dominant, 1 UMLS:C0393808|GARD:0001258|ICD10:G60.0|SCTID:763455008|OMIM:302800|Orphanet:101075|NCIT:C129068|DOID:0110209 owl:Class MONDO:0018994 biolink:NamedThing Charcot-Marie-Tooth disease type X A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. mondoexuq1wtf CMTX|COWCK|X-linked Charcot-Marie-Tooth disease|X-linked hereditary motor and sensory neuropathy SCTID:230552007|GARD:0012444|DOID:0050542|ICD10:G60.0|UMLS:CN205436|ICD9:356.9|Orphanet:64747 owl:Class MONDO:0014287 biolink:NamedThing short-rib thoracic dysplasia 11 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. mondoexuq1wtf SRTD11|short-rib thoracic dysplasia 11 with or without polydactyly OMIM:615633|UMLS:C3810200|DOID:0110095|ICD10:Q77.2 owl:Class MONDO:0019664 biolink:NamedThing short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. mondoexuq1wtf short rib-polydactyly syndrome type 3|Verma Naumoff syndrome|short rib-polydactyly syndrome type III|SRPS type 3|short rib polydactyly syndrome Verma Naumoff type|polydactyly with neonatal chondrodystrophy type III GARD:0004835|ICD9:759.89|SCTID:254051008|MESH:C537602|ICD10:Q77.2|UMLS:C0432197|Orphanet:93271 owl:Class MONDO:0016028 biolink:NamedThing erythromelalgia Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. mondoexuq1wtf MedDRA:10015284|ICD10:I73.81|UMLS:C0014804|COHD:134380|ICD9:443.82|MESH:D004916|SCTID:37151006|ICD10:I73.8|DOID:9240|Orphanet:1956|NCIT:C34593 owl:Class MONDO:0015365 biolink:NamedThing autosomal dominant hereditary sensory and autonomic neuropathy Autosomal dominant form of hereditary sensory and autonomic neuropathy. mondoexuq1wtf hereditary sensory and autonomic neuropathy, autosomal dominant ICD10:G60.8|Orphanet:140474|UMLS:CN228932 owl:Class MONDO:0012972 biolink:NamedThing febrile seizures, familial, 10 mondoexuq1wtf FEB10|convulsions, familial febrile, 10|febrile seizures, familial, 10 UMLS:C2675251|DOID:0111304|MESH:C567218|OMIM:612637 owl:Class MONDO:0000032 biolink:NamedThing febrile seizures, familial mondoexuq1wtf seizures, familial febrile DC:0000159|OMIMPS:121210|DOID:0111297 owl:Class MONDO:0007953 biolink:NamedThing Binder syndrome A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. mondoexuq1wtf Maxillonasal dysostosis|binder type maxillonasal dysplasia|MAXILLONASAL dysplasia, BINDER type|Binder syndrome|maxillonasal dysplasia|binder syndrome GARD:0006992|DOID:14683|Orphanet:1248|SCTID:715985008|UMLS:C0220692|OMIM:155050|ICD10:Q75.8|MESH:C536036 owl:Class MONDO:0002198 biolink:NamedThing vulvar glandular neoplasm A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. mondoexuq1wtf mammalian vulva glandular cell neoplasm|vulvar glandular neoplasm|vulvar glandular tumor DOID:2076|UMLS:C1520082|NCIT:C40292 owl:Class MONDO:0012964 biolink:NamedThing chromosome 15q26-qter deletion syndrome Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. mondoexuq1wtf distal monosomy 15q|telomeric 15q deletion syndrome|chromosome 15q26-qter deletion syndrome|monosomy 15q26|Drayer syndrome|15q26 deletion syndrome|distal 15q deletion syndrome|distal monosomy type 15q ICD10:Q93.5|DOID:0060397|Orphanet:1596|MESH:C567232|OMIM:612626|UMLS:C2675463|SCTID:766050000 owl:Class MONDO:0016913 biolink:NamedThing partial deletion of the long arm of chromosome 15 mondoexuq1wtf 15q monosomy|partial deletion of chromosome 15q|partial monosomy of the long arm of chromosome 15|chromosome 15q deletion|deletion 15q|partial monosomy 15q|monosomy 15q|partial monosomy of chromosome 15q|15q deletion|partial deletion of the long arm of chromosome type 15 GARD:0001746|ICD10:Q93.5|Orphanet:262119|MESH:C538038 owl:Class MONDO:0014682 biolink:NamedThing thyroid cancer, nonmedullary, 5 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene. mondoexuq1wtf thyroid cancer, nonmedullary, type 5|NMTC5|HABP2 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 5|thyroid cancer, nonmedullary caused by mutation in HABP2 UMLS:C4225292|OMIM:616535 owl:Class MONDO:0005034 biolink:NamedThing thyroid gland follicular carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. mondoexuq1wtf follicular carcinoma of the thyroid|carcinoma of thyroid follicle|follicular thyroid carcinoma|follicular adenocarcinoma (morphologic abnormality)|follicular adenocarcinoma, well differentiated|follicular carcinoma of thyroid|well-differentiated follicular adenocarcinoma|well-differentiated follicular carcinoma|thyroid gland follicular carcinoma|follicular cancer of thyroid gland|thyroid gland follicular cancer|follicular cancer of thyroid|follicular carcinoma of the thyroid gland|follicular thyroid cancer|follicular adenocarcinoma|carcinoma, follicular cell, malignant|thyroid gland adenocarcinoma|follicular cancer of the thyroid|follicular cancer of the thyroid gland|follicular carcinoma|follicular carcinoma of thyroid gland|follicular thyroid gland carcinoma|thyroid follicular carcinoma|thyroid follicle carcinoma|follicular adenocarcinoma, well differentiated (morphologic abnormality) EFO:0000501|MESH:D018263|NCIT:C8054|ICDO:8330/3|SCTID:255028004|ONCOTREE:THFO|DOID:3962|HP:0006731|ICDO:8331/3 owl:Class MONDO:0018308 biolink:NamedThing liver mesenchymal hamartoma A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good. mondoexuq1wtf liver MH|MHL|hepatic cystic hamartoma|Von Meyenburg complexes disease|mesenchymal hamartoma of the liver|mesenchymal hamartoma of liver|biliary hamartoma|VMC|liver mesenchymal hamartoma|hepatic mesenchymal hamartoma Editor note: in NCIT this is classified as non-neoplastic GARD:0002651|SCTID:715397000|UMLS:C0334091|UMLS:C1333971|Orphanet:386|NCIT:C5751|ICD10:D13.4 https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma owl:Class MONDO:0024478 biolink:NamedThing mesenchymal hamartoma mondoexuq1wtf mesenchymal hamartoma UMLS:C0334090|NCIT:C40427 owl:Class MONDO:0019832 biolink:NamedThing acquired pituitary hormone deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. mondoexuq1wtf acquired hypopituitarism Editor note: check this Orphanet:95502|ICD10:E23.0 owl:Class MONDO:0024464 biolink:NamedThing pituitary hormone deficiency, combined, 1 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. mondoexuq1wtf combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined 1|pituitary hormone deficiency, combined, 1|POU1F1 combined pituitary hormone deficiencies, genetic form|CPHD1 OMIM:613038|MESH:C567803|GARD:0010601|UMLS:C2751608 owl:Class MONDO:0013099 biolink:NamedThing combined pituitary hormone deficiencies, genetic form Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. mondoexuq1wtf genetic hypopituitarism|pituitary hormone deficiency, combined|familial congenital hypopituitarism|combined pituitary hormone deficiencies, genetic forms|familial hypopituitarism|multiple pituitary hormone deficiencies, genetic forms GARD:0010602|SCTID:718182008|OMIMPS:613038|Orphanet:95494|GARD:0002252|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism owl:Class MONDO:0001832 biolink:NamedThing bacterial esophagitis An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. mondoexuq1wtf bacterial esophagitis SCTID:235601001|NCIT:C27106|UMLS:C0341108|DOID:13921 owl:Class MONDO:0001409 biolink:NamedThing esophagitis An acute or chronic inflammatory disease affecting the esophageal wall. mondoexuq1wtf esophagus inflammation|esophagitis|acute esophagitis|inflammation of esophagus|esophagitis (disease) esophagitis (disease) ICD9:530.10|ICD10:K20|ICD9:530.12|MESH:D004941|DOID:11963|SCTID:16761005|ICD9:530.1|HP:0100633|UMLS:C0014868|NCIT:C9224|ICD10:K20.9|UMLS:C0149882 owl:Class MONDO:0014419 biolink:NamedThing ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. mondoexuq1wtf Poretti-Boltshauser syndrome|PTBHS|PORETTI-Boltshauser syndrome OMIM:615960|Orphanet:370022|ICD10:G11.1|UMLS:C4014821 owl:Class MONDO:0018451 biolink:NamedThing X-linked distal hereditary motor neuropathy X-linked form of distal hereditary motor neuropathy. mondoexuq1wtf X-linked dHMN|distal hereditary motor neuropathy, X-linked|X-linked distal spinal muscular atrophy ICD10:G12.2|Orphanet:404538 owl:Class MONDO:0000425 biolink:NamedThing X-linked disease X-linked form of disease. mondoexuq1wtf X-linked inherited disorder|X linked genetic diseases|X-linked disease or disorder|X-linked genetic disease|genetic diseases, X chromosome linked|X-linked inherited disease|genetic disease, X-linked|diseases, X-linked genetic|disease or disorder, X-linked|X-linked genetic diseases|disease, X-linked genetic|genetic diseases, X-chromosome linked|X-linked hereditary disorder|disease, X-linked|genetic diseases, X linked|X-linked hereditary disease UMLS:C1138434|SCTID:128430005|DOID:0050735|MESH:D040181|ICD9:799.89|UMLS:C2828000|NCIT:C85865 owl:Class MONDO:0016202 biolink:NamedThing autosomal dominant rhegmatogenous retinal detachment Autosomal dominant form of rhegmatogenous retinal detachment. mondoexuq1wtf rhegmatogenous retinal detachment, autosomal dominant UMLS:C1836081|ICD10:H33.0|Orphanet:209867 owl:Class MONDO:0012287 biolink:NamedThing Stickler syndrome, type I, nonsyndromic ocular mondoexuq1wtf Stickler syndrome, atypical|Stickler syndrome, type i, nonsyndromic ocular|Stickler syndrome, type I, predominantly ocular|rhegmatogenous retinal detachment, autosomal dominant Editor note: check this UMLS:C1836080|OMIM:609508 owl:Class MONDO:0016886 biolink:NamedThing partial deletion of the short arm of chromosome 4 mondoexuq1wtf partial monosomy of chromosome 4p|partial monosomy of the short arm of chromosome 4|partial deletion of chromosome 4p|partial deletion of the short arm of chromosome type 4 ICD10:Q93.3|Orphanet:261884 owl:Class MONDO:0016869 biolink:NamedThing partial deletion of chromosome 4 mondoexuq1wtf partial monosomy of chromosome 4|partial deletion of chromosome type 4 Orphanet:261781 owl:Class MONDO:0008327 biolink:NamedThing exfoliation syndrome An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. mondoexuq1wtf Pseudoexfoliation syndrome|XFS|exfoliation syndrome|Pseudoexfoliation glaucoma|XFG|Pseudoexfoliation of the lens|exfoliation glaucoma COHD:437273|NCIT:C129025|SCTID:111514006|UMLS:C0206368|ICD9:365.52|OMIM:177650|MESH:D017889|DOID:13641|EFO:0004235 owl:Class MONDO:0008832 biolink:NamedThing right atrial isomerism A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. mondoexuq1wtf heterotaxy, Visceroatrial, autosomal recessive|asplenia with cardiovascular anomalies|right atrial isomerism|right isomerism|bilateral right-sidedness sequence|asplenia syndrome|RAI|splenic agenesis syndrome|Ivemark syndrome|right atrial isomerism (disease)|polysplenia syndrome|Vah, autosomal recessive|Polyasplenia right atrial isomerism (disease) Orphanet:97548|DOID:0060856|ICD10:Q20.6|OMIM:208530|GARD:0006795|MedDRA:10068335|HP:0011536 owl:Class MONDO:0017131 biolink:NamedThing genetic cardiac anomaly mondoexuq1wtf Orphanet:271853 owl:Class MONDO:0015574 biolink:NamedThing chronic cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. mondoexuq1wtf cutaneous lupus erythematosus, chronic ICD10:L93.2|Orphanet:163531|MedDRA:10057929|UMLS:CN226705|ICD10:L93.0 owl:Class MONDO:0005282 biolink:NamedThing cutaneous lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. mondoexuq1wtf lupus erythematosus, cutaneous DOID:0050169|NCIT:C26819|SCTID:7119001|MESH:D008178|EFO:0003834|GARD:0006225|UMLS:C0024137 https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus owl:Class MONDO:0014405 biolink:NamedThing STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. mondoexuq1wtf SAVI|STING-associated vasculopathy, infantile-onset OMIM:615934|ICD9:279.8|DOID:0111457|ICD10:M35.8|GARD:0012357|SCTID:711164003|Orphanet:425120|UMLS:C4040879|UMLS:C4014722 https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy owl:Class MONDO:0019929 biolink:NamedThing 49,XXXXY syndrome The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. mondoexuq1wtf 49,XXXXY|XXXXY syndrome ICD10:Q98.1|SCTID:38847009|UMLS:C0265499|Orphanet:96264|GARD:0005679|ICD9:758.81 https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome owl:Class MONDO:0020090 biolink:NamedThing male infertility due to gonadal dysgenesis mondoexuq1wtf Male infertility due to testicular dysgenesis Orphanet:98313 owl:Class MONDO:0009609 biolink:NamedThing methylcobalamin deficiency type cblG Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. mondoexuq1wtf cblG|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|homocystinuria due to defect in methylation Cbl g|homocystinuria-megaloblastic anemia, cblG complementation type|methylcobalamin deficiency, cblG type|HMAG|methylmalonic aciduria and homocystinuria type cblG|methylcobalamin deficiency Cbl G type|methionine synthase deficiency|functional methionine synthase deficiency type cblG DOID:0050733|OMIM:250940|EFO:0005597|SCTID:721187005|GARD:0002733|GARD:0003577|ICD10:E72.1|Orphanet:2170 https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type owl:Class MONDO:0019737 biolink:NamedThing thrombotic microangiopathy The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. mondoexuq1wtf ICD9:446.6|ICD10:M31.1|COHD:313800|MedDRA:10043645|UMLS:C2717961|GARD:0012465|SCTID:126729006|Orphanet:93573|MESH:D057049|NCIT:C62605 owl:Class MONDO:0013171 biolink:NamedThing purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. mondoexuq1wtf deficiency of inosine phosphorylase|PNPase deficiency|nucleoside phosphorylase deficiency|PNP deficiency|purine nucleoside phosphorylase deficiency|purine-nucleoside phosphorylase deficiency ICD9:277.2|UMLS:C0268125|ICD10:D81.5|GARD:0004606|DOID:5813|OMIM:613179|NCIT:C3963|MESH:C562587|Orphanet:760|HGNC:7892|SCTID:60743005 https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency owl:Class MONDO:0019236 biolink:NamedThing inborn disorder of purine metabolism An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. mondoexuq1wtf rare inborn error of purine nucleobase metabolic process|inborn error of purine nucleobase metabolic process|inborn purine nucleobase metabolic process disorder|disorder of purine metabolism Orphanet:79191|MedDRA:10061476 owl:Class MONDO:0010364 biolink:NamedThing X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. mondoexuq1wtf nonspecific mental retardation associated with retinitis pigmentosa|X-linked mental handicap-retinitis pigmentosa syndrome|mental retardation, X-linked, with retinitis pigmentosa|retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|intellectual disability, X-linked, with retinitis pigmentosa|Aldred syndrome|chromosome Xp11.3 deletion syndrome|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|nonspecific intellectual disability associated with retinitis pigmentosa UMLS:C0795873|ICD10:H35.5|Orphanet:85332|SCTID:719808002|OMIM:300578|GARD:0008360 owl:Class MONDO:0054806 biolink:NamedThing microcephaly 23, primary, autosomal recessive mondoexuq1wtf microcephaly 23, PRIMARY, autosomal recessive|MCPH23 OMIM:617985|UMLS:CN244932 owl:Class MONDO:0016660 biolink:NamedThing autosomal recessive primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. mondoexuq1wtf MCPH|true microcephaly|microcephaly, primary autosomal recessive|microcephalia vera|microcephaly vera|microcephaly, primary, autosomal recessive DOID:0070296|DC:0000277|OMIMPS:251200|MESH:C579935|SCTID:715981004|GARD:0012117|ICD10:Q02|Orphanet:2512|UMLS:C3711387 https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly owl:Class MONDO:0003818 biolink:NamedThing childhood mature teratoma of the ovary A mature teratoma that arises from the ovary and occurs in children. mondoexuq1wtf pediatric mature teratoma of ovary|pediatric ovarian mature teratoma|mature ovarian teratoma of childhood|pediatric mature teratoma of the ovary|childhood mature teratoma of ovary|pediatric mature ovarian teratoma|childhood ovarian mature teratoma|childhood mature ovarian teratoma DOID:6229|UMLS:C1332991|NCIT:C6548 owl:Class MONDO:0003819 biolink:NamedThing childhood teratoma of the ovary A mature or immature teratoma that arises from the ovary and occurs in children. mondoexuq1wtf pediatric teratoma of the ovary|childhood teratoma of the ovary|pediatric teratoma of ovary|pediatric ovarian teratoma|childhood teratoma of ovary|childhood ovarian teratoma|ovarian teratoma of childhood UMLS:C1332992|DOID:6230|NCIT:C6554 owl:Class MONDO:0004086 biolink:NamedThing ciliary body epithelioid cell melanoma A epithelioid cell melanoma that involves the ciliary body. mondoexuq1wtf epithelioid cell melanoma of the ciliary body|epithelioid cell melanoma of ciliary body|ciliary body epithelioid cell melanoma NCIT:C6119|DOID:7042|UMLS:C1333050 owl:Class MONDO:0003912 biolink:NamedThing malignant ciliary body melanoma A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. mondoexuq1wtf melanoma of ciliary body|malignant melanoma of ciliary body|melanoma (disease) of ciliary body|melanoma of the ciliary body|ciliary body melanoma (disease)|ciliary body malignant melanoma|malignant melanoma of the ciliary body|ciliary body melanoma MONDO:0021434 UMLS:C0346379|DOID:6524|NCIT:C4558|ICD9:190.8|SCTID:255015006 owl:Class MONDO:0012992 biolink:NamedThing pancreatic insufficiency-anemia-hyperostosis syndrome This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. mondoexuq1wtf pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome|exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Orphanet:199337|SCTID:722207000|MESH:C567195|OMIM:612714|UMLS:C2675184|UMLS:C4302747 owl:Class MONDO:0019403 biolink:NamedThing congenital dyserythropoietic anemia Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. mondoexuq1wtf CDA|anemia, congenital dyserythropoietic|congenital dyshaematopoietic anaemia|dyserythropoietic anemia, congenital DOID:1338|UMLS:C0002876|OMIMPS:224120|MESH:D000742|ICD10:D64.4|ICD9:285.8|GARD:0001999|SCTID:52951008|NCIT:C84646|Orphanet:85 owl:Class MONDO:0014379 biolink:NamedThing ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. mondoexuq1wtf autosomal dominant mental retardation 28|MRD28|ADNP syndrome|intellectual disability, autosomal dominant 28|Helsmoortel-VAN DER AA syndrome|autosomal dominant intellectual disability 28|HVDAS|mental retardation, autosomal dominant 28 OMIM:615873|GARD:0012931|Orphanet:404448|ICD10:Q87.0|SCTID:766824003|DOID:0070058|UMLS:C4014538 owl:Class MONDO:0100172 biolink:NamedThing intellectual disability, autosomal dominant mondoexuq1wtf autosomal dominant intellectual disability|mental retardation, autosomal dominant http://orcid.org/0000-0001-5208-3432 OMIMPS:156200 owl:Class MONDO:0007490 biolink:NamedThing carpotarsal osteochondromatosis Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. mondoexuq1wtf dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|osteochondromatosis, dominant carpotarsal|dominant carpotarsal osteochondromatosis|Maroteaux Le Merrer Bensahel syndrome|Maroteaux-Le Merrer-Bensahel syndrome OMIM:127820|ICD10:D16.9|UMLS:C1300233|GARD:0001128|MESH:C565076|Orphanet:2767|SCTID:389272007 https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis owl:Class MONDO:0019708 biolink:NamedThing primary bone dysplasia with disorganized development of skeletal components mondoexuq1wtf primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components Orphanet:93450 owl:Class MONDO:0007115 biolink:NamedThing angioma serpiginosum, autosomal dominant mondoexuq1wtf autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant UMLS:C1970130|GARD:0010189|MESH:C536365|OMIM:106050 https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant owl:Class MONDO:0019803 biolink:NamedThing angioma serpiginosum Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. mondoexuq1wtf angioma serpiginosum of skin Orphanet:95429|UMLS:CN206759|ICD10:L81.7|NCIT:C3926|SCTID:49465005|DOID:4028 owl:Class MONDO:0007640 biolink:NamedThing Sorsby's fundus dystrophy Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. mondoexuq1wtf fundus dystrophy, pseudoinflammatory, of Sorsby|Sorsby fundus dystrophy|macular dystrophy, hemorrhagic|pseudoinflammatory fundus dystrophy of Sorsby|hemorrhagic macular dystrophy|SFD|Sorsby pseudoinflammatory fundus dystrophy|Sorsby's pseudoinflammatory macular dystrophy ICD10:H35.5|SCTID:193410003|MESH:C564992|DOID:0090114|OMIM:136900|GARD:0010511|Orphanet:59181 owl:Class MONDO:0020244 biolink:NamedThing unclassified primitive or secondary maculopathy mondoexuq1wtf Orphanet:98666 owl:Class MONDO:0002926 biolink:NamedThing clear cell sarcoma A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. mondoexuq1wtf clear cell sarcoma (morphologic abnormality)|chordoid sarcoma|melanoma, malignant, of soft parts|malignant melanoma of the soft parts|malignant melanoma of soft tissues|adult soft part clear cell sarcoma|clear cell sarcoma - not kidney|malignant melanoma of soft parts|clear cell sarcoma of soft parts|clear cell sarcoma of soft tissue|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney) ONCOTREE:CCS|UMLS:C0206651|DOID:4233|SCTID:402561003|NCIT:C3745|ICDO:9044/3|EFO:0008498|ICD9:171.9|MESH:D018227 owl:Class MONDO:0018078 biolink:NamedThing soft tissue sarcoma A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. mondoexuq1wtf sarcoma of soft tissue|sarcoma of the soft tissue|malignant soft tissue tumor|connective tissue sarcoma|soft part sarcoma|malignant mesenchymal tumor|non-Rhabdo. soft tissue sarcoma|soft tissue sarcoma SCTID:424952003|Orphanet:3394|GARD:0004898|UMLS:CN204398|EFO:1001968|NCIT:C9306 owl:Class MONDO:0006091 biolink:NamedThing appendix neuroendocrine tumor G1 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. mondoexuq1wtf vermiform appendix neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the appendix|vermiform appendix NET G1|appendiceal carcinoid tumor|vermiform appendix carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of vermiform appendix|appendix carcinoid tumor|appendix NET G1 (carcinoid)|vermiform appendix neuroendocrine neoplasm G1|carcinoid tumor of appendix|appendix carcinoid endocrine tumour|appendix NET G1|appendix neuroendocrine tumor G1 (carcinoid)|vermiform appendix carcinoid tumor NCIT:C4138|COHD:437238|EFO:1000092|SCTID:253002004|UMLS:C0334298|ICD9:209.11|DOID:0050911|ICDO:8240/1 owl:Class MONDO:0015066 biolink:NamedThing neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. mondoexuq1wtf appendix neuroendocrine tumor|appendix well differentiated endocrine tumor|appendiceal NEN|appendix NET|well-differentiated neuroendocrine tumor of the appendix|neuroendocrine neoplasm of appendix|appendiceal neuroendocrine neoplasm|NEN of appendix|appendix well differentiated endocrine tumor/carcinoma|appendiceal neuroendocrine tumor Orphanet:100079|ICD10:C18.1|ONCOTREE:AWDNET|ICD10:D37.3|SCTID:725167001|NCIT:C96422 owl:Class MONDO:0010472 biolink:NamedThing developmental and epileptic encephalopathy, 36 mondoexuq1wtf CDG Is|congenital disorder of glycosylation type 1s|EIEE36|congenital disorder of glycosylation type Is|CDG1S|CDG syndrome type Is|congenital disorder of glycosylation, type Is|DEE36|ALG13-CDG|epileptic encephalopathy, early infantile, 36|CDG-Is DOID:0080470|ICD10:E77.8|UMLS:C3550904|GARD:0012401|Orphanet:324422|SCTID:733451007|OMIM:300884 owl:Class MONDO:0012589 biolink:NamedThing Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. mondoexuq1wtf Pitt Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation|Pitt-Hopkins syndrome|intellectual disability, Syndromal, with intermittent hyperventilation|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea|PTHS|encephalopathy, Severe epileptic, with autonomic dysfunction GARD:0004372|ICD9:758.5|SCTID:702344008|OMIM:610954|UMLS:C1970431|DOID:0060488|NCIT:C129872|Orphanet:2896|ICD10:Q87.0|MESH:C537403 https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome owl:Class MONDO:0022769 biolink:NamedThing ciliary dyskinesia-bronchiectasis mondoexuq1wtf GARD:0001362 https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis owl:Class MONDO:0019649 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis mondoexuq1wtf idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis ICD10:N04.1|Orphanet:93206|UMLS:CN206521 owl:Class MONDO:0019067 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. mondoexuq1wtf ICD10:N04.0|Orphanet:69061 owl:Class MONDO:0004541 biolink:NamedThing pseudoglandular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. mondoexuq1wtf testicular seminoma, pseudoglandular variant UMLS:C1515293|NCIT:C40958|DOID:8358 owl:Class MONDO:0003669 biolink:NamedThing testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. mondoexuq1wtf seminomatous germ cell tumor of testis|testicular seminoma Pure|seminoma of testis|testicular seminoma|seminoma of the testis|testicular seminomatous germ cell tumor|testicular seminoma (disease)|seminoma testis|testis seminoma GARD:0004792|EFO:0003101|NCIT:C7328|HP:0100617|Orphanet:842|ICD10:C62.9|DOID:5842|ICD9:186.9|SCTID:255107005 https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma owl:Class MONDO:0014659 biolink:NamedThing infantile liver failure syndrome 2 Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene. mondoexuq1wtf infantile liver failure syndrome 2|infantile liver failure caused by mutation in NBAS|NBAS infantile liver failure|infantile liver failure syndrome type 2|ILFS2 GARD:0013113|OMIM:616483|UMLS:CN232144 owl:Class MONDO:0000023 biolink:NamedThing infantile liver failure mondoexuq1wtf liver failure, infantile|fever-associated acute infantile liver failure syndrome|infantile liver failure syndrome OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). UMLS:CN228161|OMIMPS:615438|DC:0000134|Orphanet:464724 owl:Class MONDO:0012249 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 2 A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. mondoexuq1wtf COCA2|familial non-polyposis colon cancer type 2|Hereditary nonpolyposis colorectal cancer type 2|Hereditary non-polyposis colon cancer type 2|colon cancer, familial nonpolyposis, type 2|Lynch 2 syndrome|colorectal cancer, hereditary nonpolyposis, type 2|HNPCC2 NCIT:C6726|MESH:D055847|OMIM:609310|DOID:0070274 owl:Class MONDO:0008160 biolink:NamedThing osteosclerosis with ichthyosis and fractures mondoexuq1wtf osteosclerosis with ichthyosis and fractures|cortical thickening of long bones with bowing and ichthyosis MESH:C563483|UMLS:C1833697|OMIM:166740 owl:Class MONDO:0001186 biolink:NamedThing depersonalization disorder A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. mondoexuq1wtf neurotic derealization GARD:0006260|NCIT:C94331|COHD:437244|ICD9:300.6|DOID:11038|SCTID:70764005 https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder owl:Class MONDO:0001160 biolink:NamedThing dissociative disorder A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. mondoexuq1wtf dissociative disease|dissociative reaction ICD9:300.15|MESH:D004213|ICD10:F44.9|COHD:434889|DOID:10935|ICD9:300.9|NCIT:C92197|ICD10:F48.9 owl:Class MONDO:0008893 biolink:NamedThing C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. mondoexuq1wtf Opitz C trigonocephaly|Opitz trigonocephaly C syndrome|trigonocephaly syndrome|trigonocephaly C syndrome|C syndrome|Opitz trigonocephaly syndrome|OTCS DOID:0111581|ICD10:Q87.8|MESH:C537418|GARD:0005978|Orphanet:1308|SCTID:715409005|UMLS:C0796095|OMIM:211750 https://rarediseases.info.nih.gov/diseases/5978/c-syndrome owl:Class MONDO:0002749 biolink:NamedThing extracranial neuroblastoma A neuroblastoma arising from an anatomic site other than the brain. mondoexuq1wtf extracranial neuroblastoma NCIT:C5437|UMLS:C1333499|DOID:371 owl:Class MONDO:0005072 biolink:NamedThing neuroblastoma Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. mondoexuq1wtf neuroblastoma, malignant|neural Crest tumor, malignant|NB|neuroblastoma (Schwannian Stroma-poor)|neuroblastoma NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. DOID:769|Orphanet:635|SCTID:432328008|GARD:0007185|ONCOTREE:NBL|EFO:0000621|MESH:D009447|UMLS:CN205405|UMLS:C0027819|NIFSTD:birnlex_12631|ICDO:9500/3|NCIT:C3270|ICD10:C74.9|MedDRA:10029260 https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma owl:Class MONDO:0010004 biolink:NamedThing EEC syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). mondoexuq1wtf RUDIGER syndrome|ectrodactyly-ectodermal dysplasia-clefting syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|Walker-Clodius syndrome|ectrodactyly-ectodermal dysplasia-cleft syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|ectrodactyly-cleft lip/palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|Rudiger syndrome 1 DC:0000689|ICD10:Q82.4|GARD:0002076|MESH:C536189|SCTID:39788007|UMLS:C0406704|NCIT:C148261|UMLS:CN776907|OMIM:268650|Orphanet:1896|DOID:0060782 https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome owl:Class MONDO:0009175 biolink:NamedThing eosinophilic fasciitis Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. mondoexuq1wtf Shulman syndrome|eosinophilic fasciitis (disease)|eosinophilic fasciitis|EF|diffuse fasciitis with eosinophilia eosinophilic fasciitis (disease) Orphanet:3165|MedDRA:10014954|ICD9:728.89|OMIM:226350|SCTID:24129002|ICD10:M35.4|GARD:0006351|HP:0045029|NCIT:C112116|UMLS:C0264005 owl:Class MONDO:0020122 biolink:NamedThing acquired idiopathic inflammatory myopathy An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. mondoexuq1wtf idiopathic inflammatory myopathies|IMM|idiopathic inflammatory myopathy, familial|IIm|idiopathic inflammatory myositis Orphanet:98482|SCTID:702380008|ICD9:359.79|GARD:0009128|NCIT:C116796|UMLS:C0751356 owl:Class MONDO:0017305 biolink:NamedThing syndromic oculocutaneous albinism A oculocutaneous albinism that is part of a larger syndrome. mondoexuq1wtf syndrome associated with oculocutaneous albinism|syndromic oculocutaneous albinism UMLS:CN227111|ICD10:E70.3|Orphanet:284811 owl:Class MONDO:0019290 biolink:NamedThing hypopigmentation of the skin A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. mondoexuq1wtf hypomelanoses|hypopigmentation of the skin|hypomelanosis|hypopigmentation of the skin (disease) hypopigmentation of the skin (disease) Orphanet:79376|HP:0001010|MedDRA:10040868|MESH:D017496 owl:Class MONDO:0019007 biolink:NamedThing vaginal atresia mondoexuq1wtf HP:0000148|MedDRA:10046879|ICD10:Q52.0|Orphanet:65681 owl:Class MONDO:0015932 biolink:NamedThing non-syndromic urogenital tract malformation of female A non-syndromic urogenital tract malformation that involves the female organism. mondoexuq1wtf non-syndromic urogenital tract malformation of female organism|isolated urogenital tract malformation of female|female organism non-syndromic urogenital tract malformation|nonsyndromic urogenital tract malformation of female Orphanet:182117 owl:Class MONDO:0013722 biolink:NamedThing hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. mondoexuq1wtf HLD8|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|leukodystrophy caused by mutation in POLR3B|POLR3B leukodystrophy ICD10:G11.1|DOID:0060797|UMLS:C3280644|OMIM:614381 owl:Class MONDO:0013006 biolink:NamedThing isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. mondoexuq1wtf isolated Growth hormone deficiency, type 1B|IGHD1B|congenital isolated growth hormone deficiency type IB|IGHD IB|dwarfism of Sindh|isolated growth hormone deficiency type 1B|congenital isolated GH deficiency type IB|IGHD 1B|isolated growth hormone deficiency, type IB|congenital IGHD type IB MESH:C567564|Orphanet:231671|OMIM:612781|UMLS:C2748571|GARD:0003919|ICD10:E23.0|DOID:0060874 https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b owl:Class MONDO:0000050 biolink:NamedThing isolated congenital growth hormone deficiency mondoexuq1wtf ICGHD|congenital IGHD|IGHD|isolated growth hormone deficiency|congenital isolated growth hormone deficiency|congenital isolated GH deficiency|familial isolated growth hormone deficiency|non-acquired isolated growth hormone deficiency MedDRA:10035083|GARD:0012556|DC:0000229|DOID:0060870|SCTID:2109003|OMIMPS:262400|ICD10:E23.0|Orphanet:631 owl:Class MONDO:0001213 biolink:NamedThing serous glue ear Chronic form of serous otitis media. mondoexuq1wtf serous otitis media, chronic|chronic secretory otitis media, serous|chronic serous otitis media ICD10:H65.2|SCTID:81564005|ICD10:H65.20|DOID:11181|UMLS:C0155421|ICD9:381.10|ICD9:381.1|COHD:381301|ICD9:381.19 owl:Class MONDO:0021203 biolink:NamedThing serous otitis media mondoexuq1wtf SOM|otitis media with effusion|secretory otitis media SCTID:80327007 owl:Class MONDO:0002651 biolink:NamedThing anal Paget disease A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). mondoexuq1wtf anus Paget disease|Paget's disease of anus|Paget's disease of the anus|anal Paget's disease|anus mammary Paget's disease|Paget disease of the anus|anal Paget disease UMLS:C1332274|NCIT:C5598|DOID:3446 owl:Class MONDO:0008177 biolink:NamedThing extramammary Paget disease A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. mondoexuq1wtf Paget's skin disease|extramammary Paget disease|EMPD|Paget disease Extramammary|cutaneous Paget's disease|Extramammary Paget's disease|Paget's disease of skin|Paget disease, EXTRAMAMMARY|Paget's disease of the skin GARD:0004192|OMIM:167300|EFO:1000249|MedDRA:10068223|MESH:D010145|UMLS:C0030186|Orphanet:2800|NCIT:C3302|ONCOTREE:EMPD|ICD10:C44.5|ICDO:8542/3|MedDRA:10033366 owl:Class MONDO:0014496 biolink:NamedThing mitochondrial complex III deficiency nuclear type 9 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. mondoexuq1wtf mitochondrial complex III deficiency, nuclear type 9|mitochondrial Complex 3 deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency|mitochondrial complex III deficiency caused by mutation in UQCC3|MC3DN9 UMLS:C4015253|OMIM:616111|DOID:0080118 owl:Class MONDO:0020811 biolink:NamedThing mitochondrial complex III deficiency, nuclear type mondoexuq1wtf OMIMPS:124000 owl:Class MONDO:0003709 biolink:NamedThing agoraphobia An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. mondoexuq1wtf fear of open spaces|fear of open spaces (finding) NCIT:C34362|SCTID:70691001|DOID:593|MESH:D000379|EFO:1001872|ICD10:F40.00|ICD10:F40.0 owl:Class MONDO:0004398 biolink:NamedThing mediastinal schwannoma A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. mondoexuq1wtf mediastinal schwannoma|benign mediastinal neurilemmoma|benign neurilemmoma of the mediastinum|neurilemmoma of the mediastinum|benign schwannoma of the mediastinum|schwannoma of the mediastinum|benign neurilemmoma of mediastinum|neurilemmoma of mediastinum|schwannoma of mediastinum|benign mediastinal schwannoma|benign schwannoma of mediastinum|mediastinal neurilemmoma|mediastinum schwannoma UMLS:C1334679|DOID:7922|DOID:6175|NCIT:C6643 owl:Class MONDO:0056804 biolink:NamedThing benign neoplasm of peripheral nervous system mondoexuq1wtf DOID:0080320 owl:Class MONDO:0025136 biolink:NamedThing tuberculosis, bovine An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. mondoexuq1wtf bovine tuberculosis|Tuberculoses, bovine|bovine Tuberculoses EFO:1001441|MESH:D014380|UMLS:C0041307 owl:Class MONDO:0024913 biolink:NamedThing cattle disease Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. mondoexuq1wtf cattle disease|diseases, bovine|bovine disease|disease, cattle|disease, bovine|diseases, cattle|bovine diseases UMLS:C0007453|MESH:D002418 owl:Class MONDO:0006485 biolink:NamedThing uterine carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. mondoexuq1wtf malignant mixed mesodermal (Mullerian) tumor of the uterus|uterine malignant mixed mesodermal (Mullerian) tumor|uterine carcinosarcoma|carcinosarcoma of the uterus|uterus carcinosarcoma|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|uterine malignant mixed mesodermal (Müllerian) tumor|mixed mullerian sarcoma of uterus|malignant mixed mesodermal (Müllerian) tumor of the uterus EFO:1000613|NCIT:C42700|MESH:D012192|SCTID:702369008|ONCOTREE:UCS|DOID:6171|UMLS:C0280630 owl:Class MONDO:0002928 biolink:NamedThing carcinosarcoma A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. mondoexuq1wtf MMMT|mesodermal mixed tumor|mesodermal mixed tumor (morphologic abnormality)|mixed Mullerian tumor|malignant mixed Mullerian tumor|carcinosarcoma|carcinosarcoma, malignant|mixed mesodermal (mullerian) tumor|mixed tumor, Mullerian|mullerian mixed tumor (morphologic abnormality)|malignant mixed mesodermal (mullerian) tumor|mullerian mixed tumor UMLS:C0206627|NCIT:C34448|UMLS:C0007140|UMLS:C1334603|MESH:D002296|GARD:0006966|ICDO:8980/3|DOID:4236 owl:Class MONDO:0007828 biolink:NamedThing indifference to pain, congenital, autosomal dominant mondoexuq1wtf congenital analgesia, autosomal dominant|MARSIS|Marsili syndrome|indifference to pain, congenital, autosomal dominant|MARSILI syndrome|insensitivity to pain, congenital, autosomal dominant MESH:C564128|UMLS:C1840219|OMIM:147430 owl:Class MONDO:0010822 biolink:NamedThing Warburg micro syndrome 1 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. mondoexuq1wtf RAB3GAP1 Warburg micro syndrome|micro syndrome|Warburg micro syndrome type 1|Warburg micro syndrome caused by mutation in RAB3GAP1|micro syndrome 1|WARBM1|Warburg micro syndrome 1|WARBURG micro syndrome 1 OMIM:600118|ICD10:Q87.0|DOID:0110716 owl:Class MONDO:0012284 biolink:NamedThing nephropathy, progressive, with deafness mondoexuq1wtf Alport/focal segmental glomerulosclerosis-like syndrome|nephropathy, progressive, with deafness|Nede MESH:C563713|OMIM:609469|UMLS:C1836119 owl:Class MONDO:0022919 biolink:NamedThing cytokine receptor deficiency A disease that has its basis in the disruption of cytokine receptor activity. mondoexuq1wtf disorder of cytokine receptor activity|cytokine receptor activity disease Editor note: todo, align GARD:0009530 https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency owl:Class MONDO:0044980 biolink:NamedThing disease of signal transduction mondoexuq1wtf owl:Class MONDO:0002903 biolink:NamedThing articulation disorder A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). mondoexuq1wtf articulation impairment|phonological disorder MESH:D001184|SCTID:386701004|COHD:4039744|NCIT:C92564|DOID:4186|ICD9:315.39 owl:Class MONDO:0004730 biolink:NamedThing speech disorder A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. mondoexuq1wtf speech impediment or impairment MESH:D013064|NCIT:C5041|DOID:92|UMLS:C0037822|ICD9:784.40|ICD9:784.49|SCTID:47004009 owl:Class MONDO:0003291 biolink:NamedThing leiomyoma cutis A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. mondoexuq1wtf leiomyoma of the skin|leiomyoma cutis|zone of skin leiomyoma|cutaneous leiomyoma|leiomyoma of skin|leiomyoma of zone of skin|cutaneous (skin) leiomyoma|skin leiomyoma DOID:5132|UMLS:C0346064|SCTID:254767008|NCIT:C4482 owl:Class MONDO:0044748 biolink:NamedThing anaplasmosis in cattle A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. mondoexuq1wtf Anaplasmoses MESH:D000712 owl:Class MONDO:0005583 biolink:NamedThing non-human animal disease A disease that occurs in animals. mondoexuq1wtf diseases, animal|animal disease MESH:D000820|UMLS:C0003047|EFO:0005932 owl:Class MONDO:0044879 biolink:NamedThing pancreatic mucinous-cystic neoplasm A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. mondoexuq1wtf mucinous cystic neoplasm|Pancreatic mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm NCIT:C41247|ONCOTREE:MCN owl:Class MONDO:0044880 biolink:NamedThing cystic tumor of the pancreas mondoexuq1wtf ONCOTREE:PACT owl:Class MONDO:0004166 biolink:NamedThing hereditary fallopian tube carcinoma Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. mondoexuq1wtf familial fallopian tube carcinoma|hereditary fallopian tube carcinoma|familiar fallopian tube carcinoma|hereditary fallopian tube cancer UMLS:C1512418|NCIT:C40455|DOID:7266 owl:Class MONDO:0006206 biolink:NamedThing fallopian tube carcinoma A carcinoma that arises from epithelial cells of the fallopian tube. mondoexuq1wtf cancer of fallopian tube|carcinoma of fallopian tube|cancer of the fallopian tube|carcinoma of the fallopian tube|fallopian tube Ca|fallopian tube carcinoma|fallopian tube cancer DOID:1963|UMLS:C0238122|EFO:1000251|SCTID:276870001|NCIT:C3867 owl:Class MONDO:0016816 biolink:NamedThing Leigh syndrome with nephrotic syndrome mondoexuq1wtf infantile subacute necrotizing encephalopathy with nephrotic syndrome|Leigh disease with nephrotic syndrome ICD10:G31.8|UMLS:CN202084|Orphanet:255249 owl:Class MONDO:0009723 biolink:NamedThing Leigh syndrome Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. mondoexuq1wtf LS|Leigh's necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh's disease|Leigh syndrome due to mitochondrial Complex 4 deficiency|Leigh syndrome due to mitochondrial Complex 3 deficiency|juvenile subacute necrotizing encephalomyelopathy|SNE|Leigh syndrome|necrotizing encephalopathy, infantile Subacute, of Leigh|Leigh syndrome due to mitochondrial Complex 5 deficiency|infantile necrotizing encephalomyelopathy|subacute necrotizing encephalomyelopathy|Leigh syndrome due to mitochondrial Complex 1 deficiency|Leigh disease|infantile subacute necrotizing encephalopathy|subacute necrotizing encephalopathy ICD10:G31.8|UMLS:C0023264|OMIM:256000|MESH:D007888|NCIT:C84814|MedDRA:10062950|ICD10:G31.82|DOID:3652|Orphanet:506|GARD:0006877|ICD9:330.8|SCTID:29570005 owl:Class MONDO:0013333 biolink:NamedThing odontoid hypoplasia An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. mondoexuq1wtf odontoid hypoplasia OMIM:613628|NCIT:C86969 owl:Class MONDO:0005497 biolink:NamedThing bone development disease A disease involving the bone development. mondoexuq1wtf bone development disease|disease or disorder of bone development|disorder of bone development|disease of bone development|bone development disease or disorder DOID:0080006|SCTID:371521007|EFO:0005541 owl:Class MONDO:0004425 biolink:NamedThing hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. mondoexuq1wtf overactive thyroid ICD10:E05.9|EFO:0009189|NCIT:C3123|MESH:D006980|ICD9:242.90|SCTID:34486009|DOID:7998 owl:Class MONDO:0003240 biolink:NamedThing thyroid gland disease A disease involving the thyroid gland. mondoexuq1wtf thyroid gland disease|disorder of thyroid gland|thyroid gland disease or disorder|thyroid gland diseases|disease of thyroid gland|disease or disorder of thyroid gland|thyroid gland disorders|thyroid gland disorder|thyroid disease ICD10:E00-E07|COHD:141253|ICD10:E00.E07|SCTID:14304000|Wikipedia:Thyroid_disease|MESH:D013959|ICD9:246.9|EFO:1000627|ICD9:246.8|UMLS:C0040128|ICD10:E07.9|DOID:50|ICD9:240-246.99|NCIT:C26893 owl:Class MONDO:0007878 biolink:NamedThing congenital laryngomalacia Increased collapsibility of the larynx. mondoexuq1wtf congenital laryngeal stridor|laryngomalacia congenital|laryngomalacia Orphanet:2373|NCIT:C98971|OMIM:150280|GARD:0006865|COHD:4113306|SCTID:253737007|ICD10:Q31.5|MESH:D055092|ICD9:748.3|MedDRA:10060786 owl:Class MONDO:0018562 biolink:NamedThing genetic otorhinolaryngological malformation mondoexuq1wtf Orphanet:435603 owl:Class MONDO:0024418 biolink:NamedThing muscular fibrosis multifocal obstructed vessels mondoexuq1wtf Editor note: not in ORDO as of Apr 29 2018 GARD:0003857|Orphanet:2033 owl:Class MONDO:0100014 biolink:NamedThing autoimmune retinopathy An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. mondoexuq1wtf retina autoimmune disease|autoimmune disease of retina|AIR 2018-05-23 00:32:51+00:00 GARD:0012034|SCTID:724809006|UMLS:C3203657 owl:Class MONDO:0000587 biolink:NamedThing autoimmune disease of ear, nose and throat An autoimmune form of otorhinolaryngologic disease. mondoexuq1wtf autoimmune disease of eyes, ear, nose and throat|autoimmune otorhinolaryngologic disease Editor note: ENT typically excludes eye, but the DOID class includes this DOID:0060030 owl:Class MONDO:0100108 biolink:NamedThing TPM3-related myopathy TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation. mondoexuq1wtf autosomal dominant TPM3-related myopathy|TPM3 myopathy|congenital myopathy related to TPM3 The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016377 biolink:NamedThing Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. mondoexuq1wtf PTHSL Orphanet:221150|GARD:0011967|UMLS:CN239445 https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome owl:Class MONDO:0018204 biolink:NamedThing 20q11.2 microduplication syndrome 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. mondoexuq1wtf dup(20)(q11.2) ICD10:Q93.5|SCTID:763061004|UMLS:CN204718|Orphanet:363659 owl:Class MONDO:0016970 biolink:NamedThing partial trisomy of the long arm of chromosome 20 mondoexuq1wtf partial duplication of the long arm of chromosome 20|partial trisomy of the long arm of chromosome type 20|partial trisomy of chromosome 20q|partial duplication of chromosome 20q Orphanet:262995 owl:Class MONDO:0008158 biolink:NamedThing dacryocystitis-osteopoikilosis syndrome Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). mondoexuq1wtf dacryocystitis osteopoikilosis|osteopoikilosis and dacryocystitis|Gunal-Seber-Basaran syndrome|Gunal Seber Basaran syndrome Orphanet:1562|MESH:C536061|UMLS:C1833698|SCTID:721082002|OMIM:166705|GARD:0000351 owl:Class MONDO:0019703 biolink:NamedThing primary bone dysplasia with increased bone density mondoexuq1wtf primary osteodysplasia with increased bone density|sclerosing bone dysplasia|primary skeletal dysplasia with increased bone density Orphanet:93444|UMLS:CN043667 owl:Class MONDO:0033546 biolink:NamedThing neurodegeneration, infantile-onset, biotin-responsive mondoexuq1wtf Sodium-Dependent Multivitamin Transporter Deficiency|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE|NERIB|Smvt Deficiency OMIM:618973 owl:Class MONDO:0004289 biolink:NamedThing glottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. mondoexuq1wtf glottic verrucous carcinoma|glottis verrucous carcinoma|verrucous carcinoma of the glottis|verrucous carcinoma of glottis UMLS:C0280329|DOID:7583|NCIT:C8189 owl:Class MONDO:0004080 biolink:NamedThing glottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. mondoexuq1wtf glottis epidermoid carcinoma|epidermoid carcinoma of the glottis|squamous cell carcinoma of glottis|squamous cell carcinoma of the glottis|glottic squamous cell carcinoma|glottic epidermoid carcinoma|glottis squamous cell carcinoma|epidermoid carcinoma of glottis DOID:7031|UMLS:C0280325|NCIT:C8186 owl:Class MONDO:0011360 biolink:NamedThing autosomal recessive nonsyndromic deafness 14 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. mondoexuq1wtf autosomal recessive nonsyndromic deafness type 14|deafness, autosomal recessive 14|autosomal recessive deafness 14|DFNB14 MESH:C566344|UMLS:C1863613|ICD10:H90.3|OMIM:603678|DOID:0110469 owl:Class MONDO:0003371 biolink:NamedThing breast leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. mondoexuq1wtf breast leiomyosarcoma|leiomyosarcoma of the breast|leiomyosarcoma of breast NCIT:C5186|DOID:5285|UMLS:C1332631 owl:Class MONDO:0002490 biolink:NamedThing breast sarcoma A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. mondoexuq1wtf PBS|sarcoma of the breast|breast sarcoma|sarcoma of breast DOID:3017|UMLS:C0349667|ONCOTREE:PBS|SCTID:278050001|NCIT:C4670 owl:Class MONDO:0002214 biolink:NamedThing brain germinoma A germinoma (disease) that involves the brain. mondoexuq1wtf germinoma of brain|brain germinoma (disease)|germinoma of the brain|intracranial germinoma NCIT:C6284|DOID:2127|UMLS:C1332606 owl:Class MONDO:0001657 biolink:NamedThing brain cancer A primary or metastatic malignant neoplasm affecting the brain. mondoexuq1wtf brain neoplasms, malignant|malignant tumor of the brain|malignant brain tumour|malignant primary brain tumor|malignant brain neoplasm|primary malignant neoplasm of brain|BT - brain tumour|tumor of the brain|malignant tumor of brain|brain tumor, adult|cancer of the brain|malignant brain tumor|neoplasm of unspecified nature of brain|malignant neoplasm of the brain|malignant tumor of adult brain|cancer of brain|adult brain tumor|primary brain neoplasm|brain neoplasm, adult|brain cancer|adult malignant brain neoplasm|brain neoplasm|malignant neoplasm of brain|malignant primary brain neoplasm|primary brain tumor ICD9:191|ICD9:191.8|GARD:0009307|NCIT:C3568|SCTID:428061005|ICD10:C71.9|MESH:D001932|CSP:2006-2736|DOID:1319|ICD9:191.9|ICD10:C71|ICD9:239.6 owl:Class MONDO:0003673 biolink:NamedThing apical myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. mondoexuq1wtf DOID:5848 owl:Class MONDO:0005068 biolink:NamedThing myocardial infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. mondoexuq1wtf MI, myocardial infarction|myocardial infarction, (MI)|heart attack|infarction (MI), myocardial|myocardial infarction|myocardial infarct|MI|myocardial infarction (disease) myocardial infarction (disease) DOID:5844|HP:0001658|MESH:D009203|SCTID:22298006|NCIT:C27996|EFO:0000612|UMLS:C0027051|ICD10:I22|ICD10:I21 owl:Class MONDO:0019619 biolink:NamedThing duplication of the esophagus mondoexuq1wtf ICD10:Q39.8|Orphanet:91357 owl:Class MONDO:0015207 biolink:NamedThing non-syndromic esophageal malformation A esophageal malformation that is not part of a larger syndrome. mondoexuq1wtf isolated esophageal malformation|nonsyndromic esophageal malformation Orphanet:108959 owl:Class MONDO:0002335 biolink:NamedThing chronic inflammatory demyelinating polyneuritis An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms. mondoexuq1wtf chronic inflammatory demyelinating polyneuropathy Editor note: todo add polyneuritis NCIT:C84636|ICD9:357.81|DOID:2536|ICD10:G61.81|SCTID:444728005 owl:Class MONDO:0003334 biolink:NamedThing demyelinating polyneuropathy Polyneuropathy that is characterized by demyelination of axons. mondoexuq1wtf peripheral demyelinating neuropathy UMLS:C0270922|SCTID:23414001|NCIT:C27062|DOID:5214|ICD9:356.9 owl:Class MONDO:0005197 biolink:NamedThing thymus neoplasm A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. mondoexuq1wtf neoplasm of the Thymus|neoplasm of thymus|neoplasm of Thymus|THYMUS|thymic neoplasm|thymus tumor|Thymus tumor|tumor of thymus|tumor of the Thymus|Thymus neoplasm|thymus neoplasm (disease)|thymic tumor|tumor of Thymus NCIT:C3412|SCTID:127231009|EFO:0002626|ICD9:239.89|UMLS:C3714644|ONCOTREE:THYMUS|Orphanet:100100 owl:Class MONDO:0002334 biolink:NamedThing hematopoietic and lymphoid system neoplasm Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 mondoexuq1wtf hematologic neoplasm|tumor of hematopoietic system|blood neoplasm (disease)|hematopoietic and lymphoid system tumor|blood cancer|hematopoietic neoplasm (morphologic abnormality)|hematopoietic neoplasm|hematologic malignancy|hematopoietic system neoplasm|hematopoietic and lymphoid system neoplasm|neoplasm of blood|hematological tumors|hematopoietic cancer|neoplasm of hematopoietic system|tumor of blood|hematopoietic system tumor|hematopoietic tumors|blood tumor|malignant hematopoietic neoplasm (morphologic abnormality)|hematologic cancer UMLS:C1512393|NCIT:C35813|DOID:2531|UMLS:C0376545|UMLS:C0376544|MESH:D019337|SCTID:129154003 owl:Class MONDO:0008995 biolink:NamedThing Yunis-Varon syndrome Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. mondoexuq1wtf cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varon syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|Yunis-Varón syndrome|Yunis Varon syndrome|cleidocranial dysplasia-micrognathia-absent thumbs syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|YVS OMIM:216340|MESH:C536719|UMLS:C1857663|DOID:0060589|Orphanet:3472|GARD:0000331|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome owl:Class MONDO:0009058 biolink:NamedThing cystathioninuria Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. mondoexuq1wtf Cystathione gamma-lyase deficiency syndrome|cystathioninuria (disease)|gamma-cystathionase deficiency|cystathionase deficiency|cystathione gamma-lyase deficiency syndrome|cystathioninuria cystathioninuria (disease) SCTID:13003007|GARD:0002428|UMLS:C3495552|UMLS:C0220993|UMLS:C0268616|ICD10:E72.1|GARD:2428|NCIT:C129070|HP:0003153|DOID:0090142|OMIM:219500|Orphanet:212 owl:Class MONDO:0019222 biolink:NamedThing inborn disorder of methionine cycle and sulfur amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. mondoexuq1wtf disorder of methionine cycle and sulfur amino acid metabolism|rare inborn error of sulfur amino acid metabolic process|inborn error of sulfur amino acid metabolic process|cytosolic methyl group transfer or sulfur amino acid metabolism disorder|inborn sulfur amino acid metabolic process disorder Editor note: check this SCTID:28882002|Orphanet:79173|ICD10:E72.1|UMLS:CN227589|ICD9:270.4 owl:Class MONDO:0024312 biolink:NamedThing cancer of short bone of upper limb mondoexuq1wtf ICD10:C40.1 owl:Class MONDO:0024311 biolink:NamedThing cancer affecting bone of limb skeleton A cancer that involves the limb bone. mondoexuq1wtf malignant neoplasm of limb bone|cancer of limb bone|limb bone cancer|malignant limb bone neoplasm ICD10:C40 owl:Class MONDO:0010246 biolink:NamedThing developmental and epileptic encephalopathy, 9 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. mondoexuq1wtf PCDH19-related infantile epileptic encephalopathy|familial epilepsy and mental retardation limited to females|epilepsy, female-restricted, with intellectual disability|epilepsy and mental retardation limited to females|epileptic encephalopathy, early infantile, 9|familial epilepsy and intellectual disability limited to females|female restricted epilepsy with intellectual deficit|EIEE9|PCDH19-related female-limited epilepsy|epileptic encephalopathy, early infantile, type 9|epilepsy, female restricted, with mental retardation|PCDH19 early infantile epileptic encephalopathy|Juberg Hellman syndrome|Juberg-Hellman syndrome|epilepsy, female-restricted, with mental retardation|EFMR|epilepsy, female restricted, with intellectual disability|epilepsy and intellectual disability limited to females|PCDH19-related FLE|early infantile female-limited epilecptic encephalopathy|DEE9|early infantile epileptic encephalopathy 9|female restricted epilepsy with mental retardation|early infantile epileptic encephalopathy caused by mutation in PCDH19|early infantile epileptic encephalopathy type 9|female restricted epilepsy with intellectual disability DOID:0060848|UMLS:C1848137|MESH:C564715|OMIM:300088|Orphanet:101039|GARD:0010806 owl:Class MONDO:0001007 biolink:NamedThing chronic meningitis Chronic form of meningitis (disease). mondoexuq1wtf meningitis (disease), chronic|chronic meningitis (disease) UMLS:C0154653|COHD:439797|ICD10:G03.1|SCTID:21664006|DOID:10341|ICD9:322.2 owl:Class MONDO:0021108 biolink:NamedThing meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. mondoexuq1wtf inflammation of meninx|meningitis|meningitis (disease)|meninx inflammation meningitis (disease) COHD:435785|NCIT:C26828|SCTID:7180009|ICD9:322.9 owl:Class MONDO:0003789 biolink:NamedThing hereditary papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. mondoexuq1wtf hereditary papillary carcinoma of kidney|Hereditary Papillary renal cell cancer|hereditary kidney papillary carcinoma|familial renal papillary carcinoma|hereditary papillary renal carcinoma|hereditary papillary renal cell carcinoma|hereditary papillary carcinoma of the kidney SCTID:715561008|UMLS:C0879257|DOID:6163|NCIT:C9222 owl:Class MONDO:0003008 biolink:NamedThing hereditary renal cell carcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary renal cell carcinoma (disease)|hereditary renal cell cancer|familial renal carcinoma|hereditary renal carcinoma|hereditary renal cell carcinoma MESH:C536851|SCTID:717736007|NCIT:C39789|GARD:0009571|DOID:4455 https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma owl:Class MONDO:0022113 biolink:NamedThing central centrifugal cicatricial alopecia mondoexuq1wtf central centrifugal alopecia|central centrifugal cicatricial alopecia|hot comb alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA|CCCA UMLS:C1274708|GARD:0010826|SCTID:109441000119102|ICD9:704.09|OMIM:618352 https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia owl:Class MONDO:0021034 biolink:NamedThing genetic alopecia An instance of alopecia that is caused by a modification of the individual's genome. mondoexuq1wtf genetic alopecia Orphanet:481771 owl:Class MONDO:0017582 biolink:NamedThing pituitary adenocarcinoma A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. mondoexuq1wtf cancer of pituitary|cancer of the pituitary gland|cancer of pituitary gland|pituitary gland adenocarcinoma|carcinoma of the pituitary gland|pituitary adenocarcinoma (disease)|pituitary gland carcinoma|pituitary gland cancer|carcinoma of pituitary|cancer of the pituitary|carcinoma of the pituitary|PTCA|carcinoma of pituitary gland|pituitary carcinoma pituitary adenocarcinoma (disease) ICDO:8272/3|SCTID:254955001|DOID:4916|HP:0011763|NCIT:C4536|Orphanet:300385|ICD10:C75.1|ONCOTREE:PTCA|UMLS:C0346300 owl:Class MONDO:0002109 biolink:NamedThing pituitary cancer A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. mondoexuq1wtf malignant tumor of pituitary|cancer of pituitary gland|malignant tumor of the pituitary|malignant tumor of the pituitary gland|malignant tumor of pituitary gland|malignant neoplasm of pituitary gland|pituitary neoplasm|pituitary tumor, malignant|malignant neoplasm of the pituitary|malignant neoplasm of the pituitary gland|malignant pituitary gland neoplasm|malignant pituitary gland tumor|pituitary cancer|pituitary gland cancer|malignant pituitary tumor|malignant pituitary neoplasm|pituitary gland neoplasm|pituitary neoplasms, malignant|malignant neoplasm of pituitary EFO:0005578|NCIT:C4769|DOID:1785|UMLS:C0496842|SCTID:363482009|ICD10:C75.1|GARD:0009371 owl:Class MONDO:0018827 biolink:NamedThing familial chilblain lupus An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary chilblain lupus|hereditary Chilblain lupus Orphanet:481662|OMIMPS:610448|UMLS:CN776917 owl:Class MONDO:0043455 biolink:NamedThing humoral hypercalcemia of malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. mondoexuq1wtf malignant hypercalcemia|mahc|humoral hypercalcemia of malignancy|hhm|hypercalcemia of malignancy|malignancy associated hypercalcemia SCTID:47709007|NCIT:C3496|UMLS:C0149911|MESH:C562390 owl:Class MONDO:0021073 biolink:NamedThing paraneoplastic syndrome A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. mondoexuq1wtf paraneoplastic syndrome SCTID:49783001|UMLS:C0030472|NCIT:C3311|MESH:D010257 owl:Class MONDO:0010655 biolink:NamedThing X-linked intellectual disability with marfanoid habitus The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. mondoexuq1wtf LUJAN-Fryns syndrome|Lujan syndrome|Lujan-Fryns syndrome|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|mental retardation, X-linked, with Marfanoid habitus|intellectual disability, X-linked, with Marfanoid habitus Orphanet:776|MESH:C537724|SCTID:422437002|GARD:0003307|OMIM:309520|ICD10:Q87.8 owl:Class MONDO:0100000 biolink:NamedThing MED12-related intellectual disability syndrome An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity. mondoexuq1wtf MED12 X-linked syndromic intellectual disability|X-linked syndromic intellectual disability caused by mutation in MED12 2018-03-09 01:45:27+00:00 owl:Class MONDO:0009774 biolink:NamedThing cloacal exstrophy Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. mondoexuq1wtf omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|OEIS syndrome|OEIS complex|cloacal exstrophy sequence|cloacal exstrophy|cloacal exstrophy (disease)|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|omphalocele-exstrophy-imperforate anus-spinal defects cloacal exstrophy (disease) UMLS:C1850321|SCTID:20815007|MESH:C537748|ICD10:Q64.1|DOID:0080175|ICD9:759.89|OMIM:258040|Orphanet:93929|HP:0010475|GARD:0004080|NCIT:C99142|MedDRA:10067424 owl:Class MONDO:0015216 biolink:NamedThing syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. mondoexuq1wtf syndrome associated with diaphragmatic or abdominal wall malformation|syndromic diaphragmatic or abdominal wall malformation Orphanet:108979|UMLS:CN226633 owl:Class MONDO:0016072 biolink:NamedThing anomaly of puberty or/and menstrual cycle of genetic origin An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. mondoexuq1wtf genetic anomaly of puberty or/and menstrual cycle Orphanet:202940 owl:Class MONDO:0019913 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). mondoexuq1wtf UPD(7)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7 ICD10:Q87.1|Orphanet:96182|UMLS:CN206841 owl:Class MONDO:0020056 biolink:NamedThing uniparental disomy of maternal origin mondoexuq1wtf Orphanet:98153|SCTID:726401004|ICD10:Q99.8 owl:Class MONDO:0022174 biolink:NamedThing chromosome 12p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. mondoexuq1wtf monosomy 12p|deletion 12p|12p-|partial monosomy 12p|del(12p)|loss of chromosome 12p|12p monosomy|12p deletion|12p del UMLS:C0795844|NCIT:C36410|GARD:0006068|MESH:C538301 https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion owl:Class MONDO:0019040 biolink:NamedThing chromosomal anomaly Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) mondoexuq1wtf disorders, chromosomal|chromosomal disorder|autosomal chromosome disorder|chromosome disorder, autosomal|disorder, chromosome|chromosomal anomaly|chromosome disorder|chromosomal disorders|disorders, chromosome|autosomal chromosome disorders|disorder, chromosomal|chromosomal disease|chromosome disorders, autosomal|chromosome Abnormality disorders|disorder, chromosome Abnormality|chromosome Abnormality disorder NCIT:C34470|Orphanet:68335|SCTID:409709004|ICD9:758.89|DOID:0080014|MESH:D025063 owl:Class MONDO:0014806 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 1 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. mondoexuq1wtf spinal muscular atrophy with congenital bone fractures 1|spinal muscular atrophy with congenital bone fractures type 1|SMABF1|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy type 1 with congenital bone fractures|TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|SMA1 with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4 UMLS:C1849101|OMIM:616866|OMIM:271225|MESH:C564805|UMLS:C4225177|GARD:0004947 owl:Class MONDO:0000209 biolink:NamedThing prenatal-onset spinal muscular atrophy with congenital bone fractures mondoexuq1wtf spinal muscular atrophy with congenital bone fractures|SMABF DC:0000720|UMLS:CN238807|OMIMPS:616866|Orphanet:486811 owl:Class MONDO:0014701 biolink:NamedThing spondyloepiphyseal dysplasia, Stanescu type mondoexuq1wtf spondyloepiphyseal dysplasia, Stanescu type|SED, Stanescu type|SEDSTN Orphanet:459051|OMIM:616583|ICD10:Q77.7|UMLS:C4225273 owl:Class MONDO:0022800 biolink:NamedThing collagenopathy type 2 alpha 1 Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. mondoexuq1wtf collagen II|disease or disorder caused by mutation in COL2A1|COL2A1|cartilage collagen|COL2A1 disease or disorder Editor note: TODO merge with ordo class or obsolete UMLS:C2931073|MESH:C535964|GARD:0009246|HGNC:2200 https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 owl:Class MONDO:0021081 biolink:NamedThing anti-NMDA receptor encephalitis An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor. mondoexuq1wtf anti-NMDA receptor encephalitis MESH:D060426|NCIT:C94853 owl:Class MONDO:0019385 biolink:NamedThing steroid-responsive encephalopathy associated with autoimmune thyroiditis mondoexuq1wtf SREAT|Hashimoto's encephalopathy|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto's encephalitis|Hashimoto encephalitis Editor note: TODO DP for chebi roles ICD10:G04.8|Orphanet:83601|MESH:C535841|GARD:0008570|UMLS:C0393639 owl:Class MONDO:0023563 biolink:NamedThing Kotzot-Richter syndrome mondoexuq1wtf albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies GARD:0003134|UMLS:C2931399|MESH:C537025 https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome owl:Class MONDO:0019312 biolink:NamedThing Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. mondoexuq1wtf HPS (Hermansky Pudlak syndrome)|HPS|Hermansky Pudlak syndrome MedDRA:10071775|NCIT:C37261|DOID:3753|Orphanet:79430|MESH:D022861|OMIMPS:203300|GARD:0006643|ICD10:E70.331|SCTID:9311003|ICD9:270.2|ICD10:E70.3 owl:Class MONDO:0006895 biolink:NamedThing penile neoplasm A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. mondoexuq1wtf tumor of the penis|penis tumor|penis neoplasm|neoplasm of the penis|penis neoplasm (disease)|penile neoplasm|neoplasm of penis|tumor of penis|penile tumor|penile neoplasms MedDRA:10061913|UMLS:C0030849|NCIT:C3317|ONCOTREE:PENIS|ICD9:239.5|MESH:D010412|EFO:1001094|SCTID:126896003|DOID:11624 owl:Class MONDO:0024582 biolink:NamedThing male reproductive system neoplasm A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. mondoexuq1wtf tumor of Male reproductive system|Male reproductive system tumor|neoplasm of Male reproductive system|Male reproductive system neoplasm|neoplasm of the Male reproductive system|male reproductive organ neoplasm|tumor of the Male reproductive system|male reproductive organ tumor|neoplasm of male reproductive organ|tumor of male reproductive organ ICD9:239.5|SCTID:126895004|NCIT:C3054 owl:Class MONDO:0004026 biolink:NamedThing skin tag A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction. mondoexuq1wtf fibroepithelial polyp of skin|fibroma molle|soft fibroma|fibroepithelial polyp of the skin|fibroepithelial polyp|cutaneous tag|cutaneous fibroepithelial polyp|acrochordon SCTID:201091002|DOID:6873|UMLS:C0037293|NCIT:C3374 owl:Class MONDO:0006603 biolink:NamedThing reactive cutaneous fibrous lesion A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. mondoexuq1wtf UMLS:C1335666|EFO:1000759|DOID:2053|NCIT:C27549 owl:Class MONDO:0009417 biolink:NamedThing hypergonadotropic hypogonadism-cataract syndrome This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. mondoexuq1wtf hypogonadism cataract syndrome|Lubinsky syndrome|hypogonadism-cataract syndrome|cataracts and testicular failure GARD:0000298|SCTID:721233005|OMIM:240950|MESH:C543092|Orphanet:2410|UMLS:C1855859|ICD10:E29.1 owl:Class MONDO:0010607 biolink:NamedThing heterotaxy, visceral, 1, X-linked X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. mondoexuq1wtf congenital heart defects, multiple types, 1, X-linked|heterotaxy, visceral, 1, X-linked|laterality, X-linked|dextrocardia with Other Cardiac malformations|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|heterotaxy, visceral, X-linked|HTX1|X-linked visceral heterotaxy 1|ZIC3 visceral heterotaxy|visceral heterotaxy caused by mutation in ZIC3 EFO:0009136|OMIM:306955|UMLS:C1844020|MESH:C538116|GARD:0008591 https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 owl:Class MONDO:0018677 biolink:NamedThing visceral heterotaxy A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. mondoexuq1wtf heterotaxia syndrome|situs ambiguus|lateralization defect|heterotaxy, visceral|heterotaxia|heterotaxy syndrome|visceral heterotaxy NCIT:C117273|OMIMPS:306955|UMLS:C3178805|DOID:0050545|Orphanet:450|MedDRA:10067265|EFO:0009081|ICD10:Q89.3 owl:Class MONDO:0018096 biolink:NamedThing Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. mondoexuq1wtf WMS|WM syndrome|spherophakia-brachymorphia syndrome|Marchesani-Weill syndrome|mesodermal dysmorphodystrophy congenital|congenital mesodermal dystrophy|spherophakia brachymorphia syndrome|mesodermal Dysmorphodystrophy, congenital ICD10:Q87.0|Orphanet:3449|MedDRA:10064963|GARD:0004936|MESH:D056846|ICD9:759.89|DOID:0050475|NCIT:C85226|OMIMPS:277600|SCTID:2884008|UMLS:C0265313 owl:Class MONDO:0019695 biolink:NamedThing acromelic dysplasia mondoexuq1wtf Orphanet:93436|ICD10:Q74.8 owl:Class MONDO:0024296 biolink:NamedThing vascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. mondoexuq1wtf tumor of vascular system|tumor of vascular tissue|vascular tumor|neoplasm of vascular system|vascular tumors|vascular neoplasms|neoplasms, vascular|vascular neoplasm|vascular tissue neoplasm|vascular system tumor|neoplasm of vascular tissue|tumors, vascular|vascular system neoplasm|vascular tissue tumor|vascular system neoplasm (disease) NCIT:C7388 owl:Class MONDO:0024757 biolink:NamedThing cardiovascular neoplasm A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. mondoexuq1wtf cardiovascular neoplasm|neoplasm of cardiovascular system|tumor of cardiovascular system|cardiovascular tumor|cardiovascular system tumor|cardiovascular system neoplasm SCTID:721573003|NCIT:C4784 owl:Class MONDO:0001300 biolink:NamedThing autonomic neuropathy An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. mondoexuq1wtf peripheral neuropathy of autonomic nervous system|autonomic peripheral neuropathy|autonomic nervous system peripheral neuropathy UMLS:C0259749|SCTID:277879009|DOID:0060054|CSP:2049-9000|NCIT:C27033|DOID:11504|CSP:2042-2001 owl:Class MONDO:0005244 biolink:NamedThing peripheral neuropathy A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. mondoexuq1wtf neuropathy|peripheral nerve disorder|peripheral neuropathy Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 UMLS:C0442874|NCIT:C119734|DOID:870|ICD10:G62.9|SCTID:386033004|EFO:0003100|MedDRA:10034606|EFO:0004149|NCIT:C4731 owl:Class MONDO:0005655 biolink:NamedThing ascaridiasis Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. mondoexuq1wtf Ascaridia infectious disease|ascaridiosis|Ascaridia caused disease or disorder|Ascaridia disease or disorder|infection caused by Ascaridia|infection by Ascaridia ICD10:B77|DOID:3108|MESH:D001198|UMLS:C0003952|EFO:0007155|SCTID:76160002 owl:Class MONDO:0005656 biolink:NamedThing Ascaridida infectious disease Infections with nematodes of the order ascaridida. mondoexuq1wtf Ascaridida infection|infection, Ascaridida|Ascaridida caused disease or disorder|infections, Ascaridida|Ascaridida disease or disorder MESH:D017191|EFO:0007156 owl:Class MONDO:0002837 biolink:NamedThing sarcomatoid transitional cell carcinoma A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. mondoexuq1wtf transitional cell carcinoma, sarcomatoid|transitional cell spindle cell carcinoma|transitional spindle cell carcinoma|sarcomatoid transitional cell carcinoma UMLS:C0334271|DOID:4014|ICDO:8122/3|NCIT:C4120 owl:Class MONDO:0006406 biolink:NamedThing sarcomatoid carcinoma A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. mondoexuq1wtf carcinoma, spindle cell, malignant|sarcomatoid carcinoma|spindle cell carcinoma (morphologic abnormality)|pseudosarcomatous carcinoma|spindle cell carcinoma DOID:4015|ICDO:8033/3|UMLS:C0205697|ICDO:8032/3|NCIT:C27004|EFO:1000520 owl:Class MONDO:0010043 biolink:NamedThing hereditary spastic paraplegia 17 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. mondoexuq1wtf spastic paraplegia-amyotrophy of hands and feet|hereditary spastic paraplegia type 17|hereditary spastic paraplegia caused by mutation in BSCL2|spastic paraplegia with amyotrophy of hands and feet|distal hereditary motor neuropathy type 5B|SPG17|spastic paraplegia 17, autosomal dominant|dHMN5B|Silver syndrome|BSCL2 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 17|autosomal dominant spastic paraplegia 17|Silver spastic paraplegia syndrome|spastic paraplegia 17 MESH:C536644|OMIM:270685|DOID:0110770|UMLS:C2931276|Orphanet:100998|GARD:0004219|ICD10:G11.4|UMLS:CN074197 owl:Class MONDO:0015362 biolink:NamedThing autosomal dominant distal hereditary motor neuropathy Autosomal dominant form of distal hereditary motor neuropathy. mondoexuq1wtf autosomal dominant distal hereditary motor neuropathy|autosomal dominant distal spinal muscular atrophy|autosomal dominant dHMN|distal hereditary motor neuropathy, autosomal dominant Orphanet:140465|UMLS:CN228930|DOID:0111198|ICD10:G12.1 owl:Class MONDO:0005899 biolink:NamedThing parotid disease A disease involving the parotid gland. mondoexuq1wtf parotid gland disease|disease of parotid gland|parotid gland disease or disorder|disease or disorder of parotid gland|disorder of parotid gland EFO:0007422|UMLS:C0030579|MESH:D010305|DOID:10302 owl:Class MONDO:0044987 biolink:NamedThing face disease A disease or disorder that involves the face. mondoexuq1wtf face disease|disease of face|disorder of face|disease or disorder of face|face disease or disorder SCTID:118930001|UMLS:C1290857 owl:Class MONDO:0001258 biolink:NamedThing vertebral artery occlusion mondoexuq1wtf occlusion and stenosis of vertebral artery|vertebral artery occlusion|vertebrobasial artery occlusion ICD9:433.20|DOID:11299|SCTID:195182007|ICD9:433.2|ICD10:I65.0|ICD9:433.21 owl:Class MONDO:0020673 biolink:NamedThing arterial occlusion Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart. mondoexuq1wtf arterial occlusion|arterial obstruction NCIT:C35318 owl:Class MONDO:0010828 biolink:NamedThing retinitis pigmentosa 11 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene. mondoexuq1wtf retinitis pigmentosa 11|RP11|retinitis pigmentosa caused by mutation in PRPF31|retinitis pigmentosa type 11|PRPF31 retinitis pigmentosa|RP 11 DOID:0110408|MESH:C563991|GARD:0010383|ICD10:H35.5|OMIM:600138|UMLS:C1838601 https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11 owl:Class MONDO:0019200 biolink:NamedThing retinitis pigmentosa Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. mondoexuq1wtf Rod-cone dystrophy|pericentral pigmentary retinopathy OMIMPS:268000|ICD10:H35.5|UMLS:C0035334|DOID:10584|Orphanet:791|MESH:D012174|NCIT:C85045|SCTID:28835009|MedDRA:10038914|GARD:0005694|ICD10:H35.52|UMLS:C4072872|OMIM:268000 owl:Class MONDO:0019475 biolink:NamedThing subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. mondoexuq1wtf subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|SPTCL|T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE|subcutaneous panniculitic T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|subcutaneous panniculitis-like T-cell lymphoma NCIT:C6918|MESH:C537503|EFO:1000552|ICD9:202.70|Orphanet:86884|ICD10:C83.6|ONCOTREE:SPTCL|ICD10:C86.3|GARD:0010193|OMIM:618398|SCTID:404133000|UMLS:C0522624|ICDO:9708/3 owl:Class MONDO:0004805 biolink:NamedThing leukocyte disease A disease involving leukocytes. mondoexuq1wtf disorders, leukocyte|white blood cell disorder|disease of leukocyte|leukocyte disease or disorder|leukocyte disease|disease or disorder of leukocyte|disorder of leukocyte|disorder, leukocyte|leukocyte disorder ICD9:288.9|UMLS:C0023510|ICD9:288|DOID:9500|SCTID:54097007|ICD10:D72.9|MESH:D007960 owl:Class MONDO:0024171 biolink:NamedThing radio-digito-facial dysplasia mondoexuq1wtf Van Goethem syndrome GARD:0004629 owl:Class MONDO:0011493 biolink:NamedThing Stickler syndrome type 2 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). mondoexuq1wtf COL11A1 Stickler syndrome|Stickler syndrome, type 2|STL2|Stickler syndrome, vitreous type 2|STL 2|Stickler syndrome type II|Stickler syndrome caused by mutation in COL11A1|STICKLER syndrome, type II|Stickler syndrome, beaded vitreous type GARD:0005020|Orphanet:90654|OMIM:604841|MESH:C537493|ICD10:Q87.5|NCIT:C74985|UMLS:C1858084 https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 owl:Class MONDO:0019687 biolink:NamedThing type 11 collagen-related bone disorder mondoexuq1wtf UMLS:CN227673|Orphanet:93422 https://github.com/monarch-initiative/mondo/issues/3575 owl:Class MONDO:0005047 biolink:NamedThing infertility disorder Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. mondoexuq1wtf infertility|Sterile|sterility|infertile|fertility disorders|sterile Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting NCIT:C3836|MESH:D007246|DOID:5223|EFO:0000545 owl:Class MONDO:0005039 biolink:NamedThing reproductive system disease A disease involving the reproductive system. mondoexuq1wtf reproductive system disease or disorder|disorder of reproductive system|disease of reproductive system|genital disorders|reproductive disease|reproductive system disease|disease or disorder of reproductive system|reproductive system disorder|genital system disease DOID:15|UMLS:C0178829|SCTID:362968007|NCIT:C4875|Wikipedia:Reproductive_system_disease|EFO:0000512 owl:Class MONDO:0003544 biolink:NamedThing spinal cord cancer A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. mondoexuq1wtf cancer of spinal cord|spinal cord neoplasm|malignant spinal cord tumor|malignant tumor of the spinal cord|tumor of the spinal cord|spine cancer|malignant neoplasm of spinal cord|spinal cancer|spinal neoplasm|spinal cord cancer|malignant tumor of spinal cord|malignant spinal cord neoplasm|malignant neoplasm of the spinal cord|intraspinal tumor ICD9:192.2|ICD10:C72.0|UMLS:C0153646|DOID:5612|COHD:4177234|SCTID:363475005|NCIT:C3572 owl:Class MONDO:0021234 biolink:NamedThing spinal cord neoplasm A neoplasm (disease) that involves the spinal cord. mondoexuq1wtf tumor of the spinal cord|tumor of spinal cord|neoplasm of the spinal cord|neoplasm of spinal cord|spinal cord tumor|spinal cord neoplasm (disease) NCIT:C3381|UMLS:C0037930 owl:Class MONDO:0004746 biolink:NamedThing myopathy of extraocular muscle A myopathy that involves the extra-ocular muscle. mondoexuq1wtf myopathy of extra-ocular muscle|myopathy of extraocular muscles|extra-ocular muscle myopathy SCTID:57130002|ICD10:H05.82|ICD9:376.82|UMLS:C0155286|DOID:929 owl:Class MONDO:0020120 biolink:NamedThing skeletal muscle disease A disease involving the skeletal muscle tissue. mondoexuq1wtf skeletal muscle tissue disease|skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|disease of skeletal muscle tissue|disease or disorder of skeletal muscle tissue MedDRA:10028641|Orphanet:98472|UMLS:C1533847|SCTID:75047002 owl:Class MONDO:0013735 biolink:NamedThing microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. mondoexuq1wtf MCHCCD|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|Zaki-Gleeson syndrome OMIM:614407|Orphanet:329332|UMLS:C3280692 owl:Class MONDO:0004271 biolink:NamedThing pregnancy adenoma A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. mondoexuq1wtf Lactating adenoma|Lactating adenoma (morphologic abnormality) UMLS:C1266023|NCIT:C9473|ICDO:8204/0|DOID:7539 owl:Class MONDO:0010397 biolink:NamedThing severe neonatal-onset encephalopathy with microcephaly An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. mondoexuq1wtf severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations|severe neonatal encephalopathy due to MECP2 mutations Orphanet:209370|MESH:C566878|UMLS:C1968556|ICD10:Q02|OMIM:300673|NCIT:C132293 owl:Class MONDO:0020070 biolink:NamedThing neonatal epilepsy syndrome mondoexuq1wtf This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. Orphanet:98257|UMLS:CN206974|ICD10:G40.4 https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0006469 biolink:NamedThing tibial adamantinoma An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). mondoexuq1wtf tibia adamantinoma|tibial adamantinoma morphology|tibial adamantinoma|adamantinoma of tibia|tibia long bone adamantinoma NCIT:C8461|EFO:1000596|SCTID:281702006|UMLS:C1273017|DOID:6322 owl:Class MONDO:0000952 biolink:NamedThing cancer of long bone of lower limb A cancer that involves the hindlimb long bone. mondoexuq1wtf malignant hindlimb long bone neoplasm|malignant neoplasm of long bones of leg|malignant neoplasm of hindlimb long bone|hindlimb long bone cancer|long bones of lower limb cancer|cancer of hindlimb long bone SCTID:449627008|UMLS:C3265932|ICD9:170.7|DOID:10149|ICD10:C40.2 owl:Class MONDO:0022790 biolink:NamedThing cleft tongue mondoexuq1wtf cleft tongue syndrome|bifid tongue GARD:0001395 https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue owl:Class MONDO:0009602 biolink:NamedThing metaphyseal modeling abnormality, skin lesions, and spastic paraplegia mondoexuq1wtf metaphyseal modeling abnormality, skin lesions, and spastic paraplegia|Roy Maroteaux Kremp syndrome UMLS:C1855164|MESH:C535875|GARD:0000217|OMIM:250500 owl:Class MONDO:0043543 biolink:NamedThing iatrogenic disease Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. mondoexuq1wtf conditions, hospital-acquired|iatrogenic disorder|diseases, iatrogenic|disease, iatrogenic|hospital-acquired condition|hospital-acquired conditions|iatrogenic diseases|condition, hospital-acquired|hospital acquired condition MESH:D007049|UMLS:C0020732|SCTID:12456005|ICD9:799.9 owl:Class MONDO:0000001 biolink:NamedThing disease or disorder A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. mondoexuq1wtf disease or disorder, non-neoplastic|disorder|disease|other disease|condition|disorders|diseases and disorders|diseases|disease or disorder|medical condition ICD9:799.9|OGMS:0000031|UMLS:C0012634|Orphanet:377788|SCTID:64572001|NCIT:C2991|DOID:4|MESH:D004194|EFO:0000408 owl:Class MONDO:0003105 biolink:NamedThing prostate disease A disease involving the prostate gland. mondoexuq1wtf prostate gland disease or disorder|prostate gland disease|disorder of prostate gland|disease or disorder of prostate gland|prostate disease|prostate disorder|disease of prostate gland NCIT:C26865|ICD10:N42.9|ICD9:602.9|MESH:D011469|ICD9:602.8|COHD:196734|UMLS:C0033575|SCTID:30281009|DOID:47 owl:Class MONDO:0003150 biolink:NamedThing male reproductive system disease A disease involving the male reproductive system. mondoexuq1wtf disorder of male reproductive system|male reproductive system disease or disorder|Male reproductive system disorder|disease of male reproductive system|disorder of Male reproductive system|male reproductive system disease|Male reproductive system disease|male reproductive disease|disease or disorder of male reproductive system ICD9:600-608.99|ICD10:N50.9|ICD10:N40.N51|SCTID:363194005|DOID:48|ICD9:608.9|NCIT:C27019|MESH:D005832 owl:Class MONDO:0000213 biolink:NamedThing autoimmune disease, multisystem, infantile-onset mondoexuq1wtf DC:0000725|UMLS:CN238808|OMIMPS:615952 owl:Class MONDO:0007179 biolink:NamedThing autoimmune disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). mondoexuq1wtf hypersensitivity reaction type II disease|autoimmune disorder|autoimmune hypersensitivity disease|autoimmune disease|autoimmune disease or disorder|disease, autoimmune Editor note: check OMIM ICD9:279.4|EFO:0005140|NCIT:C2889|ICD9:279.49|DOID:417|OMIM:109100|COHD:434621|MESH:D001327|SCTID:85828009|UMLS:C0004364|ICD9:720|OBI:1110054 owl:Class MONDO:0014731 biolink:NamedThing seizures-scoliosis-macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. mondoexuq1wtf SSM syndrome|SSMS|seizures, scoliosis, and macrocephaly syndrome OMIM:616682|UMLS:C4225248|GARD:0009960|Orphanet:466926 owl:Class MONDO:0012095 biolink:NamedThing intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. mondoexuq1wtf ROBIN sequence with distinctive facial appearance and brachydactyly UMLS:C1837564|ICD10:Q87.0|OMIM:608670|MESH:C563880|Orphanet:364577 owl:Class MONDO:0019066 biolink:NamedThing syndrome with brachydactyly Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. mondoexuq1wtf dysostosis with brachydactyly Orphanet:69028|ICD10:Q73.8|UMLS:CN205546 owl:Class MONDO:0019371 biolink:NamedThing narcolepsy without cataplexy Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior. mondoexuq1wtf ICD10:G47.419|UMLS:C1456240|ICD10:G47.4|EFO:0005855|UMLS:CN206062|ICD9:347.00|Orphanet:83465|SCTID:91521000119104 owl:Class MONDO:0021107 biolink:NamedThing narcolepsy A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. mondoexuq1wtf paroxysmal sleep|narcolepsy|narcolepsy, without cataplexy ICD9:347.00|OMIMPS:161400|MESH:D009290|NCIT:C84489|UMLS:C0027404|DOID:8986|SCTID:60380001 owl:Class MONDO:0011098 biolink:NamedThing prostate cancer, hereditary, 1 Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene. mondoexuq1wtf familial prostate cancer caused by mutation in RNASEL|HPC1|Prca1|prostate cancer, hereditary, 1|prostate cancer, hereditary, type 1|RNASEL familial prostate cancer OMIM:601518 owl:Class MONDO:0011883 biolink:NamedThing Curly hair - acral keratoderma - caries syndrome Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. mondoexuq1wtf Chacs|CHACS|Chac syndrome|Curly hair - acral keratoderma - caries syndrome MESH:C536220|ICD10:Q82.8|OMIM:607656|GARD:0010163|Orphanet:307766 https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome owl:Class MONDO:0015336 biolink:NamedThing malformation syndrome with odontal and/or periodontal component mondoexuq1wtf Orphanet:139042|UMLS:CN199366 owl:Class MONDO:0054591 biolink:NamedThing Stankiewicz-Isidor syndrome A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. mondoexuq1wtf STISS|Stankiewicz-Isidor syndrome OMIM:617516|UMLS:C4479599 owl:Class MONDO:0005071 biolink:NamedThing nervous system disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. mondoexuq1wtf neurologic disease|disorder of nervous system|disease of nervous system|nervous system disorder|neurological disease|neurological disorder|neurologic disorder|nervous system disease|disease or disorder of nervous system|nervous system disease or disorder ICD9:349.89|DOID:863|SCTID:118940003|ICD10:G00-G99|EFO:0000618|MESH:D009422|ICD10:G00.G99|NCIT:C26835|UMLS:C0027765|ICD10:G98.8|ICD10:G98|Wikipedia:Nervous_system_disease|ICD9:349.9 owl:Class MONDO:0041903 biolink:NamedThing gonococcal infection of joint mondoexuq1wtf gonococcal joint infection|gonococcal arthritis|gonococcal infection of joint|gonococcal rheumatism SCTID:44743006|UMLS:C0153216 owl:Class MONDO:0004471 biolink:NamedThing bacterial arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. mondoexuq1wtf pyogenic arthritis|infectious arthritis|septic arthritis ICD9:711.97|DOID:813|EFO:1001351|ICD9:711.92|ICD9:711.93|ICD9:711.0|MESH:D001170|SCTID:48245008|ICD9:711.40|ICD9:711.94|NCIT:C26699|ICD10:M00|ICD9:711.91|ICD9:711.95|ICD9:711.9|ICD10:M00.9|ICD9:711.96|ICD9:711.90 owl:Class MONDO:0017805 biolink:NamedThing intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome mondoexuq1wtf Orphanet:314575|UMLS:CN203768 owl:Class MONDO:0008713 biolink:NamedThing acrodermatitis enteropathica Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. mondoexuq1wtf inherited zinc deficiency|Brandt syndrome|Danbolt-Cross syndrome|acrodermatitis enteropathica zinc deficiency type|enteropathica|acrodermatitis enteropathica, zinc-deficiency type|ae|AEZ|acrodermatitis enteropathica, zinc deficiency type MONDO:0023070 DOID:0050605|UMLS:C0221036|GARD:0006343|OMIM:201100|SCTID:37702000|ICD10:E83.2|MESH:C538178|Orphanet:37|ICD9:686.8|NCIT:C128802|GARD:0005723 https://rarediseases.info.nih.gov/diseases/6343/enteropathica|https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica owl:Class MONDO:0019301 biolink:NamedThing metabolic disease with skin involvement mondoexuq1wtf UMLS:CN205935|Orphanet:79387 owl:Class MONDO:0003284 biolink:NamedThing mediastinum leiomyoma A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. mondoexuq1wtf leiomyoma of mediastinum|mediastinal leiomyoma|leiomyoma of the mediastinum|mediastinum leiomyoma NCIT:C6598|UMLS:C1334659|DOID:5123 owl:Class MONDO:0021521 biolink:NamedThing benign neoplasm of mediastinum A benign neoplasm that involves the mediastinum. mondoexuq1wtf benign neoplasm of the mediastinum|mediastinum benign neoplasm|benign tumor of mediastinum|benign mediastinal neoplasm|benign tumor of the mediastinum|benign mediastinal tumor ICD10:D15.2|ICD9:212.5|SCTID:92214000|UMLS:C0153956|NCIT:C3604 owl:Class MONDO:0009697 biolink:NamedThing Lafora disease Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. mondoexuq1wtf myoclonic epilepsy of Lafora|Epm2|epilepsy, progressive myoclonic, 2B|progressive myoclonus epilepsy type 2|EPM2|Lafora disease|Lafora progressive myoclonic epilepsy|PME type 2|progressive myoclonic epilepsy type 2|Lafora body disease|epilepsy, progressive myoclonic, 2A|epilepsy progressive myoclonic 2|Lafora's disease|Lafora body disorder|Melf UMLS:C0751783|OMIM:254780|GARD:0008214|DOID:3534|SCTID:230425004|NCIT:C84804|MedDRA:10054030|ICD10:G40.3|MESH:D020192|Orphanet:501 https://rarediseases.info.nih.gov/diseases/8214/lafora-disease owl:Class MONDO:0020074 biolink:NamedThing progressive myoclonus epilepsy A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. mondoexuq1wtf familial progressive myoclonic epilepsy|PME|epilepsy, progressive myoclonic|progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|progressive myoclonus epilepsy DOID:891|UMLS:C0751778|MESH:D020191|Orphanet:98261|SCTID:267581004|NCIT:C7636|OMIMPS:254800|GARD:0007140 owl:Class MONDO:0001275 biolink:NamedThing spinal meningioma Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent. mondoexuq1wtf meningioma of the spinal cord|spinal cord meningioma|meningioma, spine|meningioma (disease) of spinal cord|meningioma of spinal cord|spinal cord meningioma (disease) SCTID:189167009|NCIT:C6935|DOID:1138|UMLS:C0347515|GARD:0010264 https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma owl:Class MONDO:0001279 biolink:NamedThing intraspinal meningioma A meningioma that arises from the spinal meninges. mondoexuq1wtf meningioma of the spinal canal and spinal cord|intraspinal meningioma|meningioma of spinal canal and spinal cord|spinal canal and spinal cord meningioma DOID:1140|UMLS:C1334264|NCIT:C5134 owl:Class MONDO:0020392 biolink:NamedThing discrete fixed membranous subaortic stenosis mondoexuq1wtf Orphanet:99051|ICD10:Q24.4 owl:Class MONDO:0017727 biolink:NamedThing fixed subaortic stenosis Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form. mondoexuq1wtf Orphanet:3092|ICD10:Q24.4 owl:Class MONDO:0014598 biolink:NamedThing developmental and epileptic encephalopathy, 31 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. mondoexuq1wtf epileptic encephalopathy, early infantile, type 31|DNM1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 31|early infantile epileptic encephalopathy caused by mutation in DNM1|EIEE31|DEE31 DOID:0080437|UMLS:C4225357|OMIM:616346 owl:Class MONDO:0016532 biolink:NamedThing Lennox-Gastaut syndrome Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. mondoexuq1wtf encephalopathy of childhood|macrocephaly and epileptic encephalopathy|LGS|Lennox syndrome|epileptic encephalopathy Lennox-Gastaut type MedDRA:10048816|ICD10:G40.4|NCIT:C84816|UMLS:C0238111|SCTID:230418006|Orphanet:2382|OMIM:606369|DOID:0050561|GARD:0009912|MESH:D065768 https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome owl:Class MONDO:0013056 biolink:NamedThing developmental and epileptic encephalopathy, 39 Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. mondoexuq1wtf SLC25A12 early infantile epileptic encephalopathy|aspartate-glutamate carrier 1 deficiency|epileptic encephalopathy, early infantile, 39|DEE39|AGC1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|EIEE39|epileptic encephalopathy with global cerebral demyelination|early infantile epileptic encephalopathy caused by mutation in SLC25A12|hypomyelination, global cerebral Orphanet:353217|OMIM:612949|DOID:0080349|SCTID:726702005|MESH:C567847|UMLS:C2751855|ICD10:G31.8|UMLS:C4512050 owl:Class MONDO:0016801 biolink:NamedThing mitochondrial substrate carrier disorder mondoexuq1wtf Orphanet:254830|UMLS:CN227002 owl:Class MONDO:0004407 biolink:NamedThing stroma-dominant and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. mondoexuq1wtf composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor NCIT:C42060|DOID:7949|UMLS:C1516761 owl:Class MONDO:0003325 biolink:NamedThing nodular ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. mondoexuq1wtf ganglioneuroblastoma, nodular NCIT:C42058|DOID:5193|UMLS:C1517445 owl:Class MONDO:0001027 biolink:NamedThing gonococcal seminal vesiculitis A gonorrhea that involves the seminal vesicle. mondoexuq1wtf gonococcal seminal vesiculitis (acute)|seminal vesicle gonorrhea|gonorrhea of seminal vesicle UMLS:C0578661|DOID:10400|SCTID:301990003 owl:Class MONDO:0004767 biolink:NamedThing vesiculitis An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. mondoexuq1wtf seminal Sacs|inflammation of seminal vesicle|seminal vesicle|seminal vesicle inflammation|seminal vesiculitis|seminal vesicles|gland, seminal vesicle DOID:9365|SCTID:27001009|ICD9:608.0|UMLS:C0042588|ICD10:N49.0|COHD:200148|NCIT:C12787 owl:Class MONDO:0025030 biolink:NamedThing digital dermatitis in cattle Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease. mondoexuq1wtf digital Papillomatoses|digital dermatitis, papillomatous|footwart, bovine hairy|Papillomatoses, digital|digital Dermatitides|bovine foot Warts|digital Dermatitides, papillomatous|digital Dermatitides, bovine|hairy footwarts, bovine|Dermatitides, bovine digital|digital papillomatosis|Warts, bovine foot|bovine digital Dermatitides|footwarts, bovine hairy|foot wart, bovine|hairy footwart, bovine|wart, bovine foot|papillomatous digital dermatitis|Ovine digital Dermatitides|Ovine digital dermatitis|dermatitis, bovine digital|bovine hairy footwarts|dermatitis, digital|digital dermatitis, Ovine|foot Warts, bovine|bovine hairy footwart|digital dermatitis, bovine|digital Dermatitides, Ovine|papillomatous digital Dermatitides|bovine foot wart|papillomatosis, digital|Dermatitides, digital|bovine digital dermatitis MESH:D058066 owl:Class MONDO:0003118 biolink:NamedThing testicular Brenner tumor An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. mondoexuq1wtf testes, rudimentary Brenner tumor|testis Brenner tumor NCIT:C39953|DOID:4739|UMLS:C1515281 owl:Class MONDO:0024235 biolink:NamedThing Brenner tumor A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature. mondoexuq1wtf Brenner tumor ONCOTREE:BTOV|ICDO:9000/0|NCIT:C39954 owl:Class MONDO:0010259 biolink:NamedThing retinitis pigmentosa 24 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. mondoexuq1wtf retinitis pigmentosa type 24|RP24|retinitis pigmentosa 24|RP 24 GARD:0010389|UMLS:C3887982|DOID:0110416|ICD10:H35.5|OMIM:300155 https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24 owl:Class MONDO:0009196 biolink:NamedThing ermine phenotype Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. mondoexuq1wtf ermine phenotype|black locks with albinism and deafness syndrome|BADS|BADS syndrome|pigmentary disorder with hearing loss|O'Doherty syndrome|black locks, oculocutaneous albinism, and deafness of the sensorineural type MEDGEN:82812|MESH:C535508|ICD9:270.2|MESH:C562663|Orphanet:999|UMLS:C0268501|OMIM:227010|GARD:0000407|SCTID:10170007|UMLS:C1856899|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype owl:Class MONDO:0007277 biolink:NamedThing cataract-aberrant oral frenula-growth delay syndrome Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. mondoexuq1wtf Wellesley Carmen French syndrome|cataracts, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|cataract, aberrant oral frenula, and growth retardation Orphanet:1373|GARD:0005554|ICD10:Q87.8|SCTID:715988005|MESH:C536691|OMIM:115645 owl:Class MONDO:0022672 biolink:NamedThing autosomal dominant cataract A syndromic cataract that has autosomal dominant inheritance. mondoexuq1wtf cataract congenital autosomal dominant GARD:0001143 https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant owl:Class MONDO:0018690 biolink:NamedThing Holmes-Adie syndrome A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. mondoexuq1wtf Adie pupil|Adie's pupil|Adie's pupil or syndrome|Adie's syndrome|tonic pupil-tendon areflexia syndrome|poorly Reacting pupils|Adie syndrome|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|Holmes-Adie syndrome|Adie's pupil syndrome|tonic pupil SCTID:24225004|MESH:D000270|ICD10:H57.0|EFO:0004126|NCIT:C34357|GARD:0005749|Orphanet:454718|UMLS:C0001519|OMIM:103100|DOID:11549 owl:Class MONDO:0006658 biolink:NamedThing arteriolosclerosis The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. mondoexuq1wtf arteriolosclerosis (morphologic abnormality) NCIT:C35543|ICD10:I70|MESH:D050379|DOID:5162|EFO:1000819|UMLS:C0878486 owl:Class MONDO:0021661 biolink:NamedThing coronary atherosclerosis Atherosclerosis of the coronary vasculature. mondoexuq1wtf arteriosclerosis disorder of coronary artery|coronary atherosclerosis|coronary artery arteriosclerosis (disease)|atherosclerosis of coronary artery|coronary artery arteriosclerosis disorder NCIT:C35505|SCTID:443502000|ICD9:414.00 owl:Class MONDO:0043291 biolink:NamedThing Rokitansky-Aschoff sinuses of the gallbladder An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. mondoexuq1wtf Rokitansky-Aschoff sinuses|intramural diverticulosis of the gallbladder|Aschoff-Rokitansky sinuses UMLS:C0267892|SCTID:22149007|GARD:0009419|MESH:C535869 owl:Class MONDO:0010674 biolink:NamedThing mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. mondoexuq1wtf deficiency of iduronate-2-sulphatase|I2S deficiency|mucopolysaccharidosis, type II|Ids deficiency|MPS II|Hunter's syndrome|MPS 2|mucopolysaccharidosis II|mucopolysaccharidosis type II|MPS2|severe MPS II|Hunter syndrome|iduronate 2-sulfatase deficiency|MPSII|MPS II - Hunter syndrome|mucopolysaccharidosis, MPS-II|attenuated MPS (subtype; formerly known as mild MPS II)|sulfoiduronate sulfatase deficiency|Sids deficiency|mucopolysaccharidosis, type 2 MedDRA:10056889|DOID:12799|SCTID:70737009|Orphanet:580|OMIM:309900|ICD10:E76.1|UMLS:C0026705|NCIT:C61260|GARD:0006675|MESH:D016532 owl:Class MONDO:0010590 biolink:NamedThing FG syndrome 1 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. mondoexuq1wtf OKS|Keller syndrome|MED12 FG syndrome|FG syndrome type 1|FG syndrome caused by mutation in MED12|FG syndrome 1|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FG syndrome|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Opitz-Kaveggia syndrome Orphanet:93932|OMIM:305450 owl:Class MONDO:0019525 biolink:NamedThing tetrasomy X Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). mondoexuq1wtf tetrasomy type X|48 XXXX syndrome|48,XXXX syndrome|tetra X|48 XXXX|quadruple X SCTID:10567003|UMLS:C0265496|MESH:C536502|Orphanet:9|ICD10:Q97.1|GARD:0007754|ICD9:758.81 https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x owl:Class MONDO:0030502 biolink:NamedThing tetrasomy A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. mondoexuq1wtf tetrasomy NCIT:C36601|MESH:D058670|EFO:1001297 owl:Class MONDO:0010645 biolink:NamedThing oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. mondoexuq1wtf OCR|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|Lowe oculocerebrorenal syndrome|Lowe syndrome|OCRL|Lowe disease|Ocrl1|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|oculo-cerebro-renal syndrome|Lowe oculo-cerebro-renal syndrome|oculocerebrorenal syndrome of Lowe|oculocerebrorenal dystrophy GARD:0003295|ICD9:270.8|ICD10:E72.0|ICD10:E72.03|DOID:1056|OMIM:309000|MESH:D009800|MedDRA:10051707|UMLS:C0028860|SCTID:79385002|NCIT:C84940|Orphanet:534 owl:Class MONDO:0015962 biolink:NamedThing inherited renal tubular disease mondoexuq1wtf genetic renal tubular disease UMLS:CN200561|Orphanet:183592 owl:Class MONDO:0032760 biolink:NamedThing developmental delay with or without dysmorphic facies and autism mondoexuq1wtf DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM|DEDDFA OMIM:618454 owl:Class MONDO:0021350 biolink:NamedThing neoplasm of thorax A neoplasm (disease) that involves the thoracic segment of trunk. mondoexuq1wtf thoracic segment of trunk neoplasm (disease)|tumor of thoracic segment of trunk|thoracic neoplasm|neoplasm of thoracic segment of trunk|thoracic segment of trunk tumor|tumor of the thorax|thoracic tumor|thoracic segment of trunk neoplasm|neoplasm of the thorax|tumor of thorax NCIT:C3406|ICD9:239.89|SCTID:255058005|UMLS:C0039981 owl:Class MONDO:0016230 biolink:NamedThing simple vascular malformation mondoexuq1wtf Orphanet:211243 owl:Class MONDO:0019063 biolink:NamedThing vascular anomaly mondoexuq1wtf vascular anomaly or angioma Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 Orphanet:68419 owl:Class MONDO:0002665 biolink:NamedThing extrahepatic bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct mondoexuq1wtf adenocarcinoma of the extrahepatic bile duct|extrahepatic bile duct adenocarcinoma|adenocarcinoma of extrahepatic bile duct NCIT:C7975|UMLS:C0279659|DOID:3495 owl:Class MONDO:0003193 biolink:NamedThing bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the bile duct mondoexuq1wtf bile duct adenocarcinoma DOID:4896|UMLS:C1370800|NCIT:C27813 owl:Class MONDO:0007029 biolink:NamedThing branchio-oto-renal syndrome A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). mondoexuq1wtf Branchio-otorenal dysplasia|bor syndrome|Branchio-Oto-renal syndrome|branchiootorenal dysplasia|branchiootorenal syndrome|Branchio oto renal syndrome|Melnick-Fraser syndrome (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. ICD9:759.89|Orphanet:107|SCTID:290006|NCIT:C98983|UMLS:C0265234|DOID:14702|MedDRA:10071135|Wikipedia:Branchio-oto-renal_syndrome|MESH:D019280|UMLS:CN043574|ICD10:Q87.8|EFO:1001251|GARD:0010147 owl:Class MONDO:0019721 biolink:NamedThing syndromic renal or urinary tract malformation A renal or urinary tract malformation that is part of a larger syndrome. mondoexuq1wtf syndromic renal or urinary tract malformation|syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract UMLS:CN227683|Orphanet:93547 owl:Class MONDO:0014380 biolink:NamedThing colobomatous microphthalmia-rhizomelic dysplasia syndrome Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. mondoexuq1wtf microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|MCSKS|microphthalmia, syndromic 14|microphthalmia, syndromic type 14|MCOPS14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|microphthalmia/coloboma and skeletal dysplasia syndrome ICD10:Q87.5|Orphanet:424099|UMLS:C4014540|OMIM:615877 owl:Class MONDO:0019697 biolink:NamedThing mesomelic and rhizo-mesomelic dysplasia mondoexuq1wtf UMLS:CN229208|Orphanet:93438 owl:Class MONDO:0002766 biolink:NamedThing larynx verrucous carcinoma A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction. mondoexuq1wtf larynx verrucous carcinoma|verrucous carcinoma of the larynx|verrucous carcinoma of larynx|laryngeal verrucous carcinoma|laryngeal throat verrucous cancer UMLS:C0280328|SCTID:707427000|DOID:3752|NCIT:C8188 owl:Class MONDO:0005358 biolink:NamedThing Dengue hemorrhagic fever A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. mondoexuq1wtf Dengue haemorrhagic fever|DHF EFO:0004227|ICD10:A91|DOID:12206|NCIT:C34683|SCTID:20927009 owl:Class MONDO:0005502 biolink:NamedThing dengue disease Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). mondoexuq1wtf Dengue virus caused disease or disorder|Singapore hemorrhagic fever|hemorrhagic dengue|classical dengue|breakbone fever|Philippine hemorrhagic fever|Dengue virus infectious disease|Dengue|Dengue fever|Thai hemorrhagic fever|classic dengue|DF|Dengue virus infection|Dengue virus disease or disorder|break bone fever UMLS:C0011311|GARD:0006254|ICD10:A90|ICD10:A97.0|ICD10:A97.1|ICD10:A97.9|MESH:D003715|DOID:12205|Orphanet:99828|ICD9:061|EFO:0005547|SCTID:38362002|ICD10:A97.2|NCIT:C34528|MedDRA:10012310 owl:Class MONDO:0019454 biolink:NamedThing myelodysplastic syndrome with excess blasts A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. mondoexuq1wtf refractory Anemia with an Excess of blasts|refractory Anemia with Excess blasts|myelodysplastic syndrome with Excess blasts|RAEB|MDS-EB Orphanet:86839|MESH:D000754|ICD10:D46.2|NCIT:C7506|ICDO:9983/3|EFO:0003811|COHD:136949|SCTID:398623004|UMLS:C0002894|MedDRA:10038270 owl:Class MONDO:0044881 biolink:NamedThing hematopoietic and lymphoid cell neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. mondoexuq1wtf hematopoietic cell tumor|hematological neoplasm|hematological tumor|hematopoietic, Including myeloma|malignant hematologic neoplasm|HEMOLYMPHORETICULAR tumor, malignant|hematopoietic tumor|hematopoietic malignancy, NOS|hematopoietic and lymphoid cell neoplasm|hematologic neoplasm|hematologic malignancy|hematopoietic neoplasm|malignant hematopoietic neoplasm|hematopoietic neoplasms including Lymphomas|hematologic cancer|hematopoietic and lymphoid neoplasms|hematopoietic cancer NCIT:C27134 owl:Class MONDO:0003505 biolink:NamedThing femoral cancer A cancer involving a femur. mondoexuq1wtf malignant femur neoplasm|femoral neoplasm|malignant neoplasm of femur|neoplasm of femur|cancer of femur|femur cancer EFO:0007270|MESH:D005266|DOID:5546 owl:Class MONDO:0007354 biolink:NamedThing coloboma of optic nerve mondoexuq1wtf congenital coloboma of the optic nerve|morning glory Disc anomaly|optic nerve coloboma|optic nerve head pits, bilateral congenital|coloboma of optic nerve|coloboma of optic nerve (disease) coloboma of optic nerve (disease) ICD10:H47.319|ICD9:377.23|ICD10:H47.31|OMIM:120430|SCTID:17541006|ICD10:Q14.2|MESH:C535970|HP:0000588|DOID:11975|GARD:0008502 owl:Class MONDO:0001834 biolink:NamedThing visual pathway disease A disorder of the neural pathway from the optic nerve to the visual cortex. mondoexuq1wtf disorder of optic tract|optic tract disease or disorder|visual pathway disorder|optic tract disease|disease or disorder of optic tract|optic tract disorder|disease of optic tract Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract DOID:1393|UMLS:C0155287|ICD10:H47.9|NCIT:C35342|SCTID:54767005|SCTID:95776004 owl:Class MONDO:0020322 biolink:NamedThing acute biphenotypic leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) mondoexuq1wtf B- and T-cell mixed leukemia MedDRA:10067399|ICD9:207.80|DOID:9953|NCIT:C4673|Orphanet:98837|UMLS:C0023464|MESH:D015456|ICDO:9805/3|EFO:1000828|ICD10:C95.0|SCTID:278453007 owl:Class MONDO:0020743 biolink:NamedThing mixed phenotype acute leukemia An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. mondoexuq1wtf MPAL|mixed phenotype acute leukemia ICD10:C95.0|Orphanet:530995|MedDRA:10067399|NCIT:C82179 owl:Class MONDO:0012137 biolink:NamedThing Carney complex - trismus - pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). mondoexuq1wtf CARNEY complex variant|Carney complex variant Orphanet:319340|ICD10:Q68.8|OMIM:608837 owl:Class MONDO:0016432 biolink:NamedThing heart-hand syndrome Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. mondoexuq1wtf atriodigital dysplasia UMLS:CN201390|Orphanet:228184|ICD10:Q87.2 owl:Class MONDO:0006780 biolink:NamedThing heartwater disease A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium. mondoexuq1wtf disease, heartwater EFO:1000960|MESH:D006357|UMLS:C0018835 owl:Class MONDO:0005831 biolink:NamedThing lymph node tuberculosis Tuberculosis of the lymph node. mondoexuq1wtf scrofula|king's evil|tuberculous adenitis|lymph node tuberculosis|tuberculous lymphadenopathy MESH:D014388|EFO:0007350|DOID:4889|NCIT:C26896|SCTID:10893003|ICD10:A18.2 owl:Class MONDO:0004928 biolink:NamedThing lymph node disease Any disorder of the lymph nodes. mondoexuq1wtf lymph node disorder|disease of lymph node|disorder of lymph node|lymph node disease or disorder|lymph node disease|disease or disorder of lymph node DOID:9942|SCTID:76616003|UMLS:C0272394|NCIT:C35346 owl:Class MONDO:0012593 biolink:NamedThing brain-lung-thyroid syndrome Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). mondoexuq1wtf choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome|CAHTP|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|BLT syndrome|choreoathetosis-hypothyroidism-neonatal respiratory distress SCTID:719098007|MESH:C567034|Orphanet:209905|GARD:0012163|ICD10:E03.1|OMIM:610978 https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome owl:Class MONDO:0015778 biolink:NamedThing syndromic hypothyroidism A hypothyroidism that is part of a larger syndrome. mondoexuq1wtf syndromic hypothyroidism|syndrome associated with hypothyroidism Orphanet:177107|UMLS:CN226739 owl:Class MONDO:0044925 biolink:NamedThing oral cavity carcinoma A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. mondoexuq1wtf oral cavity cancer|mouth carcinoma|carcinoma of the oral cavity|oral cavity carcinoma|carcinoma of mouth|carcinoma of oral cavity UMLS:C0151546|NCIT:C8990 owl:Class MONDO:0006181 biolink:NamedThing digestive system carcinoma A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. mondoexuq1wtf digestive system carcinoma|carcinoma of digestive system|carcinoma of the gastrointestinal system|gastrointestinal carcinoma|gastrointestinal carcinoma (disease)|gastrointestinal system carcinoma EFO:1000218|DOID:0050922|NCIT:C96963|HP:0002672|UMLS:C0151544 owl:Class MONDO:0011173 biolink:NamedThing thrombocythemia 2 Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene. mondoexuq1wtf thrombocythemia 2|THCYT2|essential thrombocythemia caused by mutation in MPL|MPL essential thrombocythemia|thrombocythemia type 2 OMIM:601977|UMLS:C3275998 owl:Class MONDO:0005029 biolink:NamedThing essential thrombocythemia A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) mondoexuq1wtf ET|essential thrombocytosis|essential thrombocythemia|primary thrombocytosis|hemorrhagic thrombocythemia|idiopathic thrombocythemia|essential thrombocytemia|essential thrombocythaemia|primary thrombocythemia COHD:438383|ICDO:9962/3|SCTID:109994006|DOID:2224|MESH:D013920|ICD10:D47.3|UMLS:C0040028|MedDRA:10015493|GARD:0006594|ONCOTREE:ET|EFO:0000479|ICD9:238.71|Orphanet:3318|NCIT:C3407 https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia owl:Class MONDO:0004672 biolink:NamedThing fasciolopsiasis A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. mondoexuq1wtf infection by Fasciolopsis buski|infectious disease by Fasciolopsis DOID:888|SCTID:54266002|NCIT:C128388|UMLS:C0015656|ICD10:B66.5|ICD9:121.4 owl:Class MONDO:0004664 biolink:NamedThing helminthiasis A parasitic infection characterized by the infestation with worms, mainly in the intestine. mondoexuq1wtf helminth infection|worm infection|parasitic helminthiasis infectious disease|helminthiasis|helminthosis Editor note: this is a vague grouping and does not correspond to any one taxon ICD10:B65.B83|NCIT:C84751|ICD9:128.9|COHD:441793|ICD10:B83.9|MESH:D006373|UMLS:C0018889|SCTID:27601005|DOID:883|ICD10:B65-B83|GARD:0006578|ICD9:128.8|EFO:1001342|ICD9:120-129.99 owl:Class MONDO:0017496 biolink:NamedThing congenital absence of thigh and lower leg with foot present, unilateral mondoexuq1wtf Femorotibiofibular intercalary transverse meromelia, unilateral ICD10:Q72.1|Orphanet:295089 owl:Class MONDO:0017442 biolink:NamedThing congenital absence of thigh and lower leg with foot present mondoexuq1wtf Femorotibiofibular intercalary transverse meromelia ICD10:Q72.1|SCTID:55852007|Orphanet:294977|ICD9:755.33 owl:Class MONDO:0023388 biolink:NamedThing pityriasis rotunda Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. mondoexuq1wtf Pityriasis rotunda SCTID:238639005|UMLS:C0343060|GARD:0010904 owl:Class MONDO:0005093 biolink:NamedThing skin disease Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. mondoexuq1wtf zone of skin disease|disease or disorder of zone of skin|dermatosis|skin disorder|cutaneous disorder|disorder of zone of skin|skin and subcutaneous tissue disease|genodermatosis|zone of skin disease or disorder|disease of zone of skin|skin diseases and manifestations|disorder of skin ICD9:709.8|ICD9:702.8|MESH:D012871|EFO:0000701|ICD9:702|NCIT:C3371|SCTID:95320005|DOID:37 owl:Class MONDO:0012520 biolink:NamedThing insulin-resistance syndrome type A Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. mondoexuq1wtf type A insulin resistance syndrome|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|diabetes mellitus, insulin-resistant, with acanthosis nigricans|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|Iran, type a|insulin-resistant acanthosis nigricans, type A ICD10:E13|GARD:0003008|NCIT:C131836|Orphanet:2297|MESH:C562710|OMIM:610549|EFO:1001503 owl:Class MONDO:0019052 biolink:NamedThing inborn errors of metabolism An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. mondoexuq1wtf inborn metabolic disorder|inborn metabolism disorder|congenital metabolic disorder|inborn errors of metabolism|inherited metabolic disorder|metabolic hereditary disorder|inborn error of metabolism|inherited disorders of metabolism|hereditary metabolic disease|inherited disorder of metabolism|rare inherited metabolic disorder|rare inborn errors of metabolism|rare metabolic disease|congenital metabolism disorder|inborn disorders of metabolism MESH:D008661|NCIT:C34816|MedDRA:10058097|SCTID:86095007|DOID:655|Orphanet:68367|MedDRA:10062018|UMLS:C0025521 https://github.com/monarch-initiative/mondo/issues/1483 owl:Class MONDO:0019648 biolink:NamedThing achondrogenesis Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. mondoexuq1wtf Orphanet:932|OMIMPS:200600|ICD10:Q77.0|MESH:C579878|UMLS:C0001079|GARD:0002882|NCIT:C84527|SCTID:2391001|DOID:0080043|MedDRA:10066122 https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis owl:Class MONDO:0008558 biolink:NamedThing autoimmune thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. mondoexuq1wtf autoimmune thrombocytopenic purpura|idiopathic thrombocytopenia|Ideopath thrombocytopenic pur|primary thrombocytopenic purpura|idiopathic thrombocytopenic purpura|werlhof's disease|immune thrombocytopenic purpura|idiopathic purpura|ITP|thrombocytopenic purpura, autoimmune|AITP|idiopathic thrombocytopenia purpura|thrombocytopenic purpura autoimmune|immune thrombocytopenia Orphanet:3002|GARD:0005194|MedDRA:10021245|ICD9:287.31|COHD:4120621|NCIT:C3446|DOID:8924|ICD10:D69.3|EFO:0007160|OMIM:188030 owl:Class MONDO:0100241 biolink:NamedThing inherited thrombocytopenia An instance of thrombocytopenia that is inherited. mondoexuq1wtf hereditary thrombocytopenia http://orcid.org/0000-0001-5208-3432 OMIMPS:313900 owl:Class MONDO:0006921 biolink:NamedThing Actinomycetales infectious disease Infections with bacteria of the order actinomycetales. mondoexuq1wtf actinomycete infection|infection caused by actinomycetales|actinomycetales caused disease or disorder|actinomycotic infectious disease|actinomycetales infection|actinomycete infections|actinomycosis|infections, actinomycetales|actinomycetales disease or disorder|infection, actinomycete|infections, actinomycete|infection, actinomycetales|actinomycotic infection|actinomycetales infections SCTID:11817007|ICD9:039.8|UMLS:C0001255|NCIT:C84534|ICD9:039.9|EFO:1001122|SCTID:721751007|MESH:D000193 owl:Class MONDO:0024389 biolink:NamedThing anaerobic bacteria infectious disease mondoexuq1wtf infection caused by anaerobic bacteria|anaerobic bacterial infection|infection due to anaerobic bacteria Editor note: DP SCTID:423451008|UMLS:C0854328|ICD9:041.84 owl:Class MONDO:0018893 biolink:NamedThing Cobb syndrome Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. mondoexuq1wtf spinal arteriovenous metameric syndrome|SAMS 1-31|cutaneomeningospinal angiomatosis|Cobb's syndrome ICD9:239.2|GARD:0011892|ICD10:Q27.3|NCIT:C4485|Orphanet:53721|MedDRA:10068841|UMLS:C0346068|SCTID:254774003 https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome owl:Class MONDO:0015356 biolink:NamedThing hereditary neoplastic syndrome The inherited predisposition toward getting a tumor. mondoexuq1wtf familial tumor syndrome|neoplastic syndrome, hereditary|syndromes, hereditary neoplastic|familial neoplastic syndrome|cancer syndromes, hereditary|hereditary neoplastic syndromes|inherited cancer syndrome|hereditary neoplastic syndrome|hereditary tumor syndrome|cancer syndrome, hereditary|hereditary cancer syndromes|inherited cancer-predisposing syndrome|hereditary cancer syndrome|syndrome, hereditary cancer|syndrome, hereditary neoplastic|syndromes, hereditary cancer SCTID:699346009|MESH:D009386|Orphanet:140162|UMLS:CN199448|UMLS:CN882908|UMLS:C0027672|NCIT:C3266 owl:Class MONDO:0040566 biolink:NamedThing inherited glutathione metabolism disease An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process. mondoexuq1wtf glutathione metabolism disorder, inherited|inborn error of glutathione metabolism|inborn error of glutathione metabolic process|rare inborn error of glutathione metabolic process|inborn glutathione metabolic process disorder SCTID:72262000|UMLS:C0268518 owl:Class MONDO:0019241 biolink:NamedThing inborn disorder of the gamma-glutamyl cycle mondoexuq1wtf disorder of gamma-glutamyl cycle|disorder of the gamma-glutamyl cycle Editor note: request from GO SCTID:9128006|UMLS:C0268517|ICD10:E72.8|Orphanet:79196 owl:Class MONDO:0018617 biolink:NamedThing baroreflex failure Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques. mondoexuq1wtf UMLS:CN237655|Orphanet:443084|ICD10:G90.4|GARD:0010664 https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure owl:Class MONDO:0001292 biolink:NamedThing autonomic nervous system disease A disease involving the autonomic nervous system. mondoexuq1wtf segmental autonomic dysfunction|disease or disorder of autonomic nervous system|peripheral autonomic nervous system diseases|autonomic dysfunction, segmental|disorder of peripheral autonomic nervous system|autonomic nervous system disorder|nervous system diseases, sympathetic|disease of autonomic nervous system|disorder of the autonomic nervous system|disorder of autonomic nervous system|ANS (autonomic nervous system) diseases|ANS diseases|central autonomic nervous system diseases|autonomic peripheral nervous system diseases|disorders of the autonomic nervous system|dysautonomia|nervous system diseases, autonomic|autonomic nervous system disease|autonomic diseases|autonomic dysfunctions, segmental|ANS disease|autonomic nervous system disease or disorder|autonomic nervous system disorders|autonomic disease|autonomic central nervous system diseases|segmental autonomic dysfunctions|autonomic nervous disease Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html SCTID:15241006|MESH:D001342|COHD:434633|ICD9:337.9|DOID:11465|SCTID:128123007|ICD9:337.1 owl:Class MONDO:0006054 biolink:NamedThing reproductive system neoplasm A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. mondoexuq1wtf neoplasm of reproductive system|neoplasm of the reproductive system|tumor of the reproductive system|reproductive system neoplasm|reproductive neoplasm|reproductive system neoplasm (disease)|tumor of reproductive system|reproductive system tumor|reproductive tumor UMLS:C0178830|EFO:1000051|NCIT:C3674 owl:Class MONDO:0009564 biolink:NamedThing Marden-Walker syndrome Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. mondoexuq1wtf MWKS|Mws|MARDEN-WALKER syndrome|Marden-Walker syndrome|connective tissue disorder Marden Walker type MESH:C535910|ICD9:759.89|Orphanet:2461|OMIM:248700|GARD:0006973|ICD10:Q87.0|SCTID:449824004 owl:Class MONDO:0008222 biolink:NamedThing Andersen-Tawil syndrome Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. mondoexuq1wtf Potassium-sensitive cardiodysrhythmic type|LQT7|ATS|long QT syndrome type 7|cardiodysrhythmic potassium-sensitive periodic paralysis|long QT syndrome 7|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|Andersen syndrome|Andersen-Tawil syndrome|Andersen cardiodysrhythmic periodic paralysis|periodic paralysis, Potassium-sensitive cardiodysrhythmic type ICD9:759.89|OMIM:170390|UMLS:C1563715|SCTID:422348008|MESH:D050030|ICD10:G72.3|NCIT:C84559|DOID:0050434|Orphanet:37553|GARD:0009453 owl:Class MONDO:0019171 biolink:NamedThing familial long QT syndrome A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. mondoexuq1wtf hereditary long QT syndrome|congenital long QT syndrome|Ward-Romano syndrome|Romano-Ward syndrome|LQTS|Romano-Ward long QT syndrome OMIMPS:192500|ICD10:I45.8|Orphanet:768|UMLS:C0035828|UMLS:C1141890|SCTID:442917000|MedDRA:10057926 owl:Class MONDO:0004189 biolink:NamedThing esophageal tuberculosis A tuberculosis that involves the esophagus. mondoexuq1wtf tuberculosis of esophagus|esophagus tuberculosis DOID:7332|SCTID:15284007|UMLS:C0152902|ICD9:017.83|ICD9:017.81|ICD9:017.8|ICD9:017.80 owl:Class MONDO:0003749 biolink:NamedThing esophageal disease A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. mondoexuq1wtf esophageal ulcer|esophageal disorder|esophagus disease or disorder|disease or disorder of esophagus|disease of esophagus|disorder of esophagus|esophagus disease SCTID:37657006|ICD10:K22.9|NCIT:C3027|MESH:D004935|DOID:6050|SCTID:30811009|ICD9:530.9|UMLS:C0014852|ICD9:530|ICD9:530.2|ICD9:530.20 owl:Class MONDO:0024610 biolink:NamedThing parasitic skin disease Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. mondoexuq1wtf disease, parasitic skin|diseases, parasitic skin|skin disease, parasitic|parasitic skin disease|parasitic skin diseases UMLS:C0037280|MESH:D012876 owl:Class MONDO:0024294 biolink:NamedThing skin disease caused by infection Skin diseases caused by bacteria, fungi, parasites, or viruses. mondoexuq1wtf infectious skin disease|disease, infectious skin|diseases, infectious skin|skin disease, infectious|infectious skin diseases MESH:D012874 owl:Class MONDO:0010226 biolink:NamedThing 46,XY sex reversal 2 mondoexuq1wtf dosage-sensitive Sex reversal|46,XY Sex reversal, Dax1-related|46,XY SEX reversal 2|SRXY2|46,XY sex reversal 2|46,XY Sex reversal type 2 MESH:C535601|DOID:0111777|OMIM:300018|UMLS:C1848296 owl:Class MONDO:0010765 biolink:NamedThing 46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. mondoexuq1wtf pure gonadal dysgenesis 46,XY|46,XY gonadal dysgenesis|sex-reversing locus on X, formerly|Swyer syndrome|46,XY SEX reversal|46,XY pure gonadal dysgenesis|46,XY CGD|46 XY gonadal dysgenesis|46, XY complete gonadal dysgenesis|testis-determining Factor, X-chromosomal|46, XY pure gonadal dysgenesis|gonadal dysgenesis, XY female type|46, XY CGD|sex-reversing locus on X DOID:14448|GARD:0005068|NCIT:C120198|MESH:D006061|Orphanet:242|ICD10:Q99.1|UMLS:C2936694|OMIMPS:400044|SCTID:95218005|UMLS:C0018054 owl:Class MONDO:0010503 biolink:NamedThing Bartter disease type 5 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. mondoexuq1wtf Bartter syndrome, type 5, antenatal, transient|MAGED2 Bartter syndrome|BARTS5|Bartter syndrome caused by mutation in MAGED2 UMLS:C4310820|DOID:0110147|ICD10:E26.8|OMIM:300971 owl:Class MONDO:0100343 biolink:NamedThing antenatal Bartter syndrome A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome. mondoexuq1wtf Bartter syndrome, furosemide type|Bartter syndrome, furosemide-amiloride type|hyperprostaglandin E syndrome http://orcid.org/0000-0001-5208-3432 Orphanet:93604 owl:Class MONDO:0019470 biolink:NamedThing aggressive NK-cell leukemia A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. mondoexuq1wtf NK cell leukemia|NK-cell large granular lymphocyte leukemia|NK-cell LGL leukemia|aggressive NK-cell leukemia/lymphoma|aggressive NK-cell leukemia|aggressive NK cell leukemia|aggressive natural killer cell leukemia|ANKL|aggressive NK-cell leukemia (morphologic abnormality)|aggressive NK-cell lymphoma|ANKCL|leukemia (disease) of natural killer cell|natural Killer cell leukemia|natural killer cell leukemia (disease)|NK-cell leukemia|natural killer cell leukemia|large granular lymphocyte leukemia, NK-cell type UMLS:C1292777|NCIT:C8647|ICD10:C94.8|ICDO:9948/3|GARD:0010493|DOID:1035|SCTID:721310007|ICD10:C94.7|MedDRA:10028811|Orphanet:86873|ONCOTREE:ANKL https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia owl:Class MONDO:0044201 biolink:NamedThing T+ B+ severe combined immunodeficiency mondoexuq1wtf T-cell positive B-cell positive SCID|T+B+ SCID ICD10:D81.2|Orphanet:397802 owl:Class MONDO:0015974 biolink:NamedThing severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. mondoexuq1wtf severe combined immunodeficiency (disease)|severe combined immunodeficiency disease|SCID|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency severe combined immunodeficiency (disease) MedDRA:10069566|HP:0004430|UMLS:C0085110|DOID:627|ICD10:D81.1|MESH:D016511|SCTID:31323000|NCIT:C3472|ICD10:D81.0|Orphanet:183660|ICD10:D81.9|GARD:0007628|ICD10:D81.3|ICD10:D81.2|COHD:29783 owl:Class MONDO:0023048 biolink:NamedThing ectodermal dysplasia neurosensory deafness mondoexuq1wtf GARD:0002053 https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness owl:Class MONDO:0019287 biolink:NamedThing ectodermal dysplasia syndrome The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. mondoexuq1wtf congenital ectodermal defect|ectodermal dysplasia (select examples)|ectodermal dysplasia SCTID:8654005|MESH:D004476|NCIT:C84683|Orphanet:79373|GARD:0006317|DOID:2121|COHD:134757|MedDRA:10010452|UMLS:C0013575|ICD9:757.31|OMIMPS:305100 owl:Class MONDO:0024410 biolink:NamedThing infection caused by Bifidobacterium A disease caused by infection with Bifidobacterium. mondoexuq1wtf Bifidobacterium infection|Bifidobacterium disease or disorder|Bifidobacterium caused disease or disorder|Bifidobacterium infectious disease|infection caused by Bifidobacterium SCTID:721759009|UMLS:C1096283 owl:Class MONDO:0021679 biolink:NamedThing gram-positive bacterial infections Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. mondoexuq1wtf bacterial infections, Gram-positive|Gram Positive bacterial infections|infections, Gram-positive bacterial|bacterial infection, Gram-positive|Gram-positive bacterial infection|bacterial infections, Gram Positive|infection, Gram-positive bacterial|infections, Gram Positive bacterial Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now SCTID:371582002|ICD9:041.89|MESH:D016908 owl:Class MONDO:0018347 biolink:NamedThing severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome mondoexuq1wtf severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability Orphanet:397933|ICD10:Q87.8|UMLS:CN226082 owl:Class MONDO:0020119 biolink:NamedThing X-linked syndromic intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. mondoexuq1wtf syndromic X-linked mental retardation|syndromic X-linked intellectual disability|syndromic intellectual disability, X-linked|intellectual disability, X-linked syndromic|mental retardation, X-linked syndromic OMIMPS:309510|DOID:0060309|Orphanet:98464 owl:Class MONDO:0000291 biolink:NamedThing granulomatous amebic encephalitis Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. mondoexuq1wtf granulomatous amebic encephalitis due to Acanthamoeba|Acanthamoeba encephalitis|granulomatous amoebic encephalitis|Acanthamoeba granulomatous encephalitis SCTID:230187000|GARD:0012651|ICD9:323.2|UMLS:C0338428|DOID:0050246 https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis owl:Class MONDO:0020067 biolink:NamedThing infectious encephalitis An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. mondoexuq1wtf encephalitis infection NCIT:C79550|MESH:D000069544|ICD9:049.8|ICD9:323.4|SCTID:312215006 owl:Class MONDO:0010922 biolink:NamedThing Satoyoshi syndrome Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. mondoexuq1wtf Satoyoshi syndrome|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities|Komuragaeri disease GARD:0000160|Orphanet:3130|MESH:C536616|MedDRA:10070579|SCTID:763630007|OMIM:600705|UMLS:C1833454 https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome owl:Class MONDO:0019852 biolink:NamedThing inherited primary ovarian failure An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. mondoexuq1wtf non-acquired premature ovarian failure|inherited premature ovarian failure|hereditary primary ovarian failure OMIMPS:311360|ICD10:E28.3|Orphanet:95710 owl:Class MONDO:0019027 biolink:NamedThing otopalatodigital syndrome Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. mondoexuq1wtf oto-palatal-digital syndrome|Taybi syndrome|oto-palato-digital syndrome|type 2 (Andre syndrome) ICD10:Q87.0|SCTID:767130007|UMLS:CN205496|Orphanet:669|GARD:0007293 owl:Class MONDO:0009728 biolink:NamedThing nephronophthisis 1 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. mondoexuq1wtf nephronophthisis 1|nephronophthisis (disease) caused by mutation in NPHP1|juvenile nephronophthisis 1|NPHP1 nephronophthisis (disease)|NPH1|NPHP1|nephronophthisis, familial juvenile|familial juvenile nephronophthisis|Nph1|juvenile nephronophthisis|nephronophthisis type 1 NCIT:C74998|ICD10:Q61.5|MESH:C537699|UMLS:C1855681|OMIM:256100|UMLS:CN205459|DOID:0111112|Orphanet:93592|SCTID:444830001 owl:Class MONDO:0012164 biolink:NamedThing Meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. mondoexuq1wtf Meacham Winn Culler syndrome|Meacham syndrome|Meacham-Winn-Culler syndrome|Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome Orphanet:3097|GARD:0003432|SCTID:722461004|UMLS:C1837026|ICD10:Q87.8|OMIM:608978 owl:Class MONDO:0015846 biolink:NamedThing syndromic uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. mondoexuq1wtf syndromic uterovaginal malformation|syndrome associated with uterovaginal malformation UMLS:CN226751|Orphanet:180148 owl:Class MONDO:0018123 biolink:NamedThing intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. mondoexuq1wtf autosomal recessive intellectual disability due to TRAPPC9 deficiency Orphanet:352530|UMLS:CN204496|ICD10:Q04.8 owl:Class MONDO:0100021 biolink:NamedThing photosensitive occipital lobe epilepsy A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty. mondoexuq1wtf 2018-06-22 22:48:33+00:00 owl:Class MONDO:0020072 biolink:NamedThing childhood-onset epilepsy syndrome A epilepsy syndrome that occurs during childhood. mondoexuq1wtf pediatric epilepsy syndrome|epilepsy syndrome of childhood|childhood epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. UMLS:CN206976|Orphanet:98259|ICD10:G40.4 https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0015843 biolink:NamedThing uterine hypoplasia mondoexuq1wtf ICD10:Q51.8|MedDRA:10063146|Orphanet:180139 owl:Class MONDO:0015829 biolink:NamedThing non-syndromic uterovaginal malformation A uterovaginal malformation that is not part of a larger syndrome. mondoexuq1wtf isolated uterovaginal malformation|nonsyndromic uterovaginal malformation Orphanet:180065 owl:Class MONDO:0024565 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome 1 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. mondoexuq1wtf EDSS1|NECTIN4 ectodermal dysplasia-syndactyly syndrome|ectodermal dysplasia-syndactyly syndrome 1|ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4 UMLS:C3150807|OMIM:613573 owl:Class MONDO:0013311 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. mondoexuq1wtf ectodermal dysplasia-syndactyly syndrome type 1|EDSS1|EDSS|ectodermal dysplasia-syndactyly syndrome 1 OMIMPS:613573|UMLS:CN228599|DC:0000645|ICD10:Q82.8|Orphanet:247820 owl:Class MONDO:0019164 biolink:NamedThing 6q terminal deletion syndrome 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. mondoexuq1wtf Orphanet:75857|ICD10:Q93.5|UMLS:C4304514|UMLS:CN205719|SCTID:719666002 owl:Class MONDO:0016644 biolink:NamedThing logopenic progressive aphasia Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. mondoexuq1wtf LPA|Logopenic variant PPA|Logopenic primary progressive aphasia SCTID:716380002|UMLS:C4049711|Orphanet:250831|ICD10:G31.0|GARD:0010791 https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia owl:Class MONDO:0019806 biolink:NamedThing primary progressive aphasia Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). mondoexuq1wtf PPA|Mesulam syndrome|primary progressive aphasia syndrome GARD:0008541|EFO:0009053|UMLS:C0282513|ICD10:G31.0|Orphanet:95432|NCIT:C85024|MESH:D018888 owl:Class MONDO:0012552 biolink:NamedThing multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. mondoexuq1wtf multiple endocrine neoplasia, type IV|CDKN1B multiple endocrine neoplasia|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia, type 4|MEN4 DOID:0080137|Orphanet:276152|ICD10:D44.8|MESH:C567059|OMIM:610755|UMLS:C4274947|SCTID:715907003|UMLS:C1970712|NCIT:C157449 owl:Class MONDO:0017169 biolink:NamedThing multiple endocrine neoplasia Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. mondoexuq1wtf men|men syndromes|multiple endocrine neoplasia syndrome|multiple endocrine neoplasia syndrome(s)|multiple endocrine adenomatosis|multiple endocrine neoplasia|men syndrome MedDRA:10061299|ICDO:8360/1|NCIT:C6432|SCTID:46724008|DC:0000291|Orphanet:276161|ICD10:D44.8|ICD9:258.0|UMLS:C0027662|OMIMPS:131100 owl:Class MONDO:0045020 biolink:NamedThing glycine metabolism disease A disease that has its basis in the disruption of glycine metabolic process. mondoexuq1wtf glycine metabolic process disease|disorder of glycine metabolism|glycine metabolism disease|disorder of glycine metabolic process UMLS:C0268558|SCTID:83076007 owl:Class MONDO:0037871 biolink:NamedThing amino acid metabolism disease A disease that has its basis in the disruption of cellular amino acid metabolic process. mondoexuq1wtf amino acidopathy|disorder of amino acid metabolism|amino acid disorder|disorder of cellular amino acid metabolic process|amino acid metabolism disorder|cellular amino acid metabolic process disease SCTID:44779003|NCIT:C97090 owl:Class MONDO:0032799 biolink:NamedThing mitochondrial DNA depletion syndrome 16 (hepatic type) mondoexuq1wtf MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)|MTDPS16 OMIM:618528 owl:Class MONDO:0018158 biolink:NamedThing mitochondrial DNA depletion syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. mondoexuq1wtf mtDNA depletion syndrome DOID:0070329|ICD10:G71.3|DC:0000284|UMLS:CN239350|MedDRA:10059396|Orphanet:35698|OMIMPS:603041 owl:Class MONDO:0014441 biolink:NamedThing Bardet-Biedl syndrome 13 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. mondoexuq1wtf Bardet-Biedl syndrome type 13|Bardet-Biedl syndrome caused by mutation in MKS1|BBS13|Bardet-Biedl syndrome 13|MKS1 Bardet-Biedl syndrome MESH:C567140|ICD10:Q87.89|OMIM:615990|UMLS:C2673873|DOID:0110135 owl:Class MONDO:0015229 biolink:NamedThing Bardet-Biedl syndrome Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems mondoexuq1wtf BBS ICD10:Q87.89|MedDRA:10056715|OMIMPS:209900|SCTID:5619004|NCIT:C118632|Orphanet:110|UMLS:C0752166|MESH:D020788|GARD:0006866|ICD9:759.89|ICD10:Q87.8|DOID:1935 owl:Class MONDO:0009256 biolink:NamedThing galactorrhea Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. mondoexuq1wtf galactorrhea|galactorrhea (disease) galactorrhea (disease) SCTID:78622004|MESH:D005687|ICD9:611.6|OMIM:230300|HP:0100829|NCIT:C113343 owl:Class MONDO:0005905 biolink:NamedThing periodic limb movement disorder Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) mondoexuq1wtf nocturnal myoclonus UMLS:C0751774|DOID:9207|EFO:0007428|ICD9:327.51|SCTID:418763003|ICD10:G47.61 owl:Class MONDO:0003406 biolink:NamedThing sleep-wake disorder Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. mondoexuq1wtf sleep-related neurogenic Tachypneas|sleeper syndromes, long|phenotype, short sleep|syndromes, short sleeper|long sleeper syndromes|short sleep phenotypes|disorders, sleep|wake disorder, sleep|short sleeper syndrome|sleep phenotypes, short|sleep related neurogenic tachypnea|long sleeper syndrome|disorder of sleep-wake schedule|sleeper syndromes, short|circadian dysregulation|sleep disorder|Tachypneas, sleep-related neurogenic|disorders of the sleep-wake schedule|disorder of sleep-wake cycle|non-organic sleep disorder|disorder, sleep|short sleeper syndromes|sleeper syndrome, short|neurogenic tachypnea, sleep-related|short sleep phenotype|Subwakefullness syndromes|syndrome, short sleeper|sleep wake disorder|phenotypes, short sleep|wake disorders, sleep|syndrome, Subwakefullness|disorder, sleep wake|sleeper syndrome, long|neurogenic Tachypneas, sleep-related|disturbed nyctohemeral rhythm|disorders, sleep wake|syndromes, long sleeper|sleep disorders|syndrome, long sleeper|syndromes, Subwakefullness|sleep-related neurogenic tachypnea|Subwakefullness syndrome|tachypnea, sleep-related neurogenic ICD9:307.49|ICD9:307.4|DOID:535|ICD9:307.40|MESH:D012893|ICD10:G47|EFO:0008568|SCTID:39898005 owl:Class MONDO:0016506 biolink:NamedThing ectopic aldosterone-producing tumor Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. mondoexuq1wtf Extra-adrenal aldosterone-producing tumor ICD10:E26.8|UMLS:CN201515|Orphanet:231632 owl:Class MONDO:0001422 biolink:NamedThing primary aldosteronism An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. mondoexuq1wtf primary aldosteronism|Conn syndrome|Conn's syndrome|primary hyperaldosteronism Editor note: DOID class refers to adenoma-caused Conn syndrome DOID:12028|NCIT:C34510|SCTID:190507007|ICD10:E26.0|ICD10:E26.01|COHD:434000|ICD9:255.12 owl:Class MONDO:0002322 biolink:NamedThing angiodysplasia Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. mondoexuq1wtf angiodysplasia of stomach and duodenum with hemorrhage UMLS:C0085411|DOID:2494|ICD9:537.83|SCTID:90858003|MESH:D016888 owl:Class MONDO:0022608 biolink:NamedThing brittle bone syndrome lethal type mondoexuq1wtf GARD:0001018 https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type owl:Class MONDO:0012807 biolink:NamedThing epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. mondoexuq1wtf EBS-PA|EBSPA|epidermolysis bullosa simplex with pyloric atresia|EBS with pyloric atresia ICD10:Q81.0|UMLS:C2677349|SCTID:716701004|MESH:C567408|OMIM:612138|Orphanet:158684 owl:Class MONDO:0015551 biolink:NamedThing basal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes. mondoexuq1wtf epidermolysis bullosa simplex of stratum basale of epidermis|stratum basale of epidermis epidermolysis bullosa simplex SCTID:723163000|UMLS:C4302031|ICD10:Q81.0|Orphanet:158665 owl:Class MONDO:0100273 biolink:NamedThing glyceronephosphate O-acyltransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene. mondoexuq1wtf glyceronephosphate O-acyltransferase deficiency|GNPAT deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0017986 biolink:NamedThing disorder of plasmalogens biosynthesis mondoexuq1wtf disorder of plasmalogens biosynthesis Orphanet:3276|UMLS:CN237437 owl:Class MONDO:0019621 biolink:NamedThing chronic pneumonitis of infancy Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD). mondoexuq1wtf CPI UMLS:CN206472|UMLS:C3872848|Orphanet:91359|ICD10:J84.0|SCTID:708026002 owl:Class MONDO:0017019 biolink:NamedThing interstitial lung disease specific to infancy mondoexuq1wtf ILD specific to infancy UMLS:CN202332|Orphanet:264694 owl:Class MONDO:0017139 biolink:NamedThing oromandibular-limb hypogenesis syndrome Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). mondoexuq1wtf oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome Orphanet:2749|ICD10:Q87.5|UMLS:CN202556|GARD:0004116 owl:Class MONDO:0011875 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 11 Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene. mondoexuq1wtf epilepsy, idiopathic generalized, susceptibility to, type 11|epilepsy, juvenile absence, susceptibility to, 2|epilepsy, idiopathic generalized, susceptibility to, 11|epilepsy, juvenile myoclonic, susceptibility to, 8|CLCN2 generalised epilepsy|susceptibility to idiopathic generalized epilepsy 11|generalised epilepsy caused by mutation in CLCN2|EIG11 DOID:0111312|OMIM:607628 owl:Class MONDO:0009696 biolink:NamedThing juvenile myoclonic epilepsy Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). mondoexuq1wtf myoclonic epilepsy, juvenile, 1|JME|epilepsy, myoclonic juvenile|juvenile myoclonus epilepsy|EJM|Janz syndrome|myoclonic epilepsy, juvenile|myoclonic epilepsy, juvenile, susceptibility to, 1|Petit Mal, impulsive ICD9:345.10|DOID:4890|UMLS:C0270853|ICD10:G40.3|EFO:0006572|NCIT:C84796|SCTID:6204001|OMIMPS:254770|MESH:D020190|Orphanet:307|MedDRA:10071082|GARD:0006808 https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy owl:Class MONDO:0009533 biolink:NamedThing Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. mondoexuq1wtf Dahlberg Borer Newcomer syndrome|lymphedema hypoparathyroidism syndrome|lymphedema-hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome|Dahlberg syndrome|hypoparathyroidism lymphedema syndrome UMLS:C1855477|OMIM:247410|SCTID:721083007|ICD10:Q87.8|MESH:C535769|GARD:0000237|Orphanet:1563 https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome owl:Class MONDO:0019313 biolink:NamedThing hereditary lymphedema Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. mondoexuq1wtf hereditary lymphedema type I|congenital hereditary lymphedema|early onset lymphedema|Nonne’s syndrome|Nonne-Milroy disease|Milroy's disease|Nonne-Milroy lymphedema|congenital primary lymphedema|hereditary lymphedema 1|lymphedema, hereditary|hereditary lymphedema|Nonne-Milroy syndrome ICD9:757.0|SCTID:399889006|Orphanet:79452|SCTID:254199006|DOID:0050580|ICD10:Q82.0|GARD:0007220|OMIMPS:153100 owl:Class MONDO:0016032 biolink:NamedThing femoral agenesis/hypoplasia Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. mondoexuq1wtf congenital short femur|femoral intercalary meromelia GARD:0001503|Orphanet:1987|SCTID:93255008|ICD9:755.34|ICD10:Q72.4 owl:Class MONDO:0009666 biolink:NamedThing holocarboxylase synthetase deficiency Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. mondoexuq1wtf early-onset multiple carboxylase deficiency|multiple carboxylase deficiency - neonatal onset|biotin-(propionyl-CoA-carboxylase) ligase deficiency|multiple carboxylase deficiency, early onset|holocarboxylase synthase deficiency|neonatal multiple carboxylase deficiency|holocarboxylase synthetase deficiency|HLCS deficiency|multiple carboxylase deficiency, neonatal form|multiple carboxylase deficiency May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 MESH:D028922|OMIM:253270|DOID:859|ICD9:270.8|Orphanet:79242|NCIT:C98842|ICD10:D81.818|UMLS:C0268581|GARD:0002721|SCTID:360369003|SCTID:15307001|ICD10:E53.8 https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency owl:Class MONDO:0100033 biolink:NamedThing metabolic epilepsy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. mondoexuq1wtf 2018-06-23 18:55:00+00:00 owl:Class MONDO:0019418 biolink:NamedThing X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. mondoexuq1wtf UMLS:CN206173|ICD10:Q87.8|Orphanet:85319 owl:Class MONDO:0002377 biolink:NamedThing breast intracanalicular fibroadenoma A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. mondoexuq1wtf breast intracanalicular fibroadenoma|intracanalicular fibroadenoma of breast|intracanalicular fibroadenoma of the breast|intracanalicular fibroadenoma|intracanalicular breast fibroadenoma DOID:2656|NCIT:C4271|UMLS:C0334496|ICDO:9011/0 owl:Class MONDO:0002056 biolink:NamedThing breast fibroadenoma A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported. mondoexuq1wtf Complex fibroadenoma of breast|fibroadenoma|juvenile fibroadenoma of breast|fibroadenoma of the breast|juvenile fibroadenoma|juvenile fibroadenoma (morphologic abnormality)|fibroadenoma, benign|FA|breast fibroadenoma|fibroadenoma of breast|cellular fibroadenoma ICDO:9010/0|DOID:1618|UMLS:C0178421|ICD10:D24|ONCOTREE:FA|MESH:D018226|EFO:1000254|UMLS:C0206650|NCIT:C3744|UMLS:C0346158|SCTID:254847007 owl:Class MONDO:0016060 biolink:NamedThing laryngotracheoesophageal cleft A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. mondoexuq1wtf LTEC|laryngo-tracheo-esophageal cleft|Larnygeotracheoesophageal cleft|laryngeal cleft|congenital cleft larynx|laryngo-tracheo-esophageal diastema|tracheal cleft|LC ICD10:Q32.1|GARD:0003188|Orphanet:2004|MESH:C537875|NCIT:C98622|SCTID:232461002 owl:Class MONDO:0001420 biolink:NamedThing trigeminal nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure. mondoexuq1wtf tumor of trigeminal nerve|neoplasm of fifth cranial nerve|trigeminal nerve neoplasms|neoplasm of trigeminal nerve|cranial nerve V neoplasms|trigeminal nerve tumors|tumor of fifth cranial nerve|trigeminal nerve neoplasm|neoplasms, cranial nerve V|fifth cranial nerve tumor|fifth cranial nerve neoplasm|tumors, cranial nerve V|neoplasm of the fifth cranial nerve|neoplasm of the trigeminal nerve|trigeminal nerve tumor|tumor of the trigeminal nerve|cranial nerve V tumors|trigeminal nerve neoplasm (disease)|tumor of the fifth cranial nerve DOID:1201|NCIT:C5122|SCTID:126971002|UMLS:C1263897|ICD9:239.7 owl:Class MONDO:0003543 biolink:NamedThing trigeminal nerve disease A disease involving the trigeminal nerve. mondoexuq1wtf disease or disorder of trigeminal nerve|disorders of the vth cranial nerve|disease of trigeminal nerve|trigeminal nerve disorder|disorder of the fifth cranial nerve|trigeminal nerve disease|disorders of the fifth nerve|trigeminal nerve disease or disorder|disorder of trigeminal nerve DOID:561|NCIT:C26952|MESH:D020433|SCTID:64309007|ICD9:350.8 owl:Class MONDO:0041752 biolink:NamedThing paucibacillary leprosy A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. mondoexuq1wtf paucibacillary leprosy|tuberculoid leprosy SCTID:416483009 owl:Class MONDO:0005124 biolink:NamedThing leprosy Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. mondoexuq1wtf Mycobacterium leprae caused disease or disorder|Hansen's disease|Hansen disease|Mycobacterium leprae infectious disease|Mycobacterium leprae disease or disorder MedDRA:10024229|ICD10:A30.1|ICD10:A30.3|EFO:0001054|SCTID:81004002|ICD9:030|COHD:432821|ICD10:A30|DOID:1024|Orphanet:548|ICD10:A30.0|ICD10:A30.8|ICD9:030.8|NCIT:C84824|ICD9:030.9|ICD10:A30.4|ICD10:A30.9|ICD10:A30.5|ICD10:A30.2|GARD:0006886|MESH:D007918|UMLS:C0023343 owl:Class MONDO:0023224 biolink:NamedThing inherited reflex epilepsy An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary reflex epilepsy GARD:0002455 owl:Class MONDO:0018904 biolink:NamedThing primary membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. mondoexuq1wtf Mesangiocapillary glomerulonephritis|membranoproliferative glomerulonephritis|MPGN UMLS:C0017662|GARD:0011982|Orphanet:54370|MedDRA:10018370|SCTID:80321008|COHD:433257|ICD10:N00.5|ICD9:583.2|NCIT:C34644 owl:Class MONDO:0015163 biolink:NamedThing primary glomerular disease mondoexuq1wtf Orphanet:102373|UMLS:CN197503 owl:Class MONDO:0005945 biolink:NamedThing rhinoscleroma A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. mondoexuq1wtf EFO:0007470|UMLS:C0035468|MESH:D012226|DOID:11336|SCTID:72409005|ICD9:040.1 owl:Class MONDO:0001468 biolink:NamedThing synovial plica syndrome mondoexuq1wtf synovial plica of knee|plica syndrome UMLS:C0410485|ICD10:M67.5|SCTID:240171001|DOID:12225|ICD9:727.83|ICD9:727.9 owl:Class MONDO:0056799 biolink:NamedThing synovium disease A disease or disorder that involves the layer of synovial tissue. mondoexuq1wtf disorder of synovium|layer of synovial tissue disease or disorder|disorder of layer of synovial tissue|disease of layer of synovial tissue|layer of synovial tissue disease|disease or disorder of layer of synovial tissue UMLS:C0263945|ICD9:727.89|ICD9:727.9|SCTID:3519007 owl:Class MONDO:0010737 biolink:NamedThing spondyloepiphyseal dysplasia tarda, X-linked X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. mondoexuq1wtf X-linked spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia tarda, X-linked|SEDT|X linked spondyloepiphyseal dysplasia tarda|Sed tarda, X-linked|SED|spondyloepiphyseal dysplasia tarda X-linked|spondyloepiphyseal dysplasia, late OMIM:313400|GARD:0004985 https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked owl:Class MONDO:0019667 biolink:NamedThing spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. mondoexuq1wtf Orphanet:93284|DOID:0080362|ICD9:756.9|SCTID:51952004|ICD10:Q77.7 owl:Class MONDO:0003421 biolink:NamedThing mixed cell adenoma An adenoma characterized by the presence of a mixed epithelial cell population. mondoexuq1wtf mixed cell adenoma ICDO:8323/0|DOID:5385|NCIT:C4157|UMLS:C0334323 owl:Class MONDO:0021043 biolink:NamedThing mixed neoplasm A neoplasm composed of at least two distinct cellular populations. mondoexuq1wtf mixed neoplasm|mixed tumor ICDO:8940/1|NCIT:C6930|MESH:D018193 owl:Class MONDO:0004604 biolink:NamedThing Hodgkin's lymphoma, lymphocytic-histiocytic predominance A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) mondoexuq1wtf lymphocyte rich Hodgkin's lymphoma|lymphocyte rich classical Hodgkin lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte-rich Classic Hodgkin lymphoma|Hodgkin lymphoma, lymphocytic-histiocytic predominance|LRCHL|lymphocyte rich classical Hodgkin's disease|Hodgkin's disease, lymphocyte predominance [obs]|Hodgkin's disease, lymphocyte predominance|lymphocyte rich Hodgkin lymphoma|lymphocyte-rich classical Hodgkin's lymphoma|classic Hodgkin lymphoma, lymphocyte-rich type|Hodgkin lymphoma, lymphocyte-rich|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte rich Hodgkin's disease MedDRA:10020231|SCTID:118607005|ONCOTREE:LRCHL|ICD10:C81.4|NCIT:C6913|Orphanet:98845|ICDO:9651/3|ICD9:201.4|DOID:8543 owl:Class MONDO:0009348 biolink:NamedThing classic Hodgkin lymphoma Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. mondoexuq1wtf Hodgkin disease|lymphoma, Hodgkin, classic|classic Hodgkin disease|classical Hodgkin's lymphoma|classical Hodgkin lymphoma|Chl UMLS:CN204952|ICD10:C81.2|ONCOTREE:CHL|NCIT:C7164|ICD10:C81.1|ICD10:C81.3|ICD10:C81.4|ICD10:C81.7|ICD10:C81.0|Orphanet:391|OMIM:236000|ICD10:C81.9 owl:Class MONDO:0012316 biolink:NamedThing Majeed syndrome Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. mondoexuq1wtf MJDS|chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|chronic recurrent multifocal osteomyelitis, congenital|Majeed syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|MAJEED syndrome|CDA and CRMO|dyserythropoietic anemia, and neutrophilic dermatosis SCTID:703540008|NCIT:C119058|MedDRA:10072223|MESH:C537839|ICD9:759.89|GARD:0010088|OMIM:609628|UMLS:C1864997|Orphanet:77297 https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome owl:Class MONDO:0017369 biolink:NamedThing autoinflammatory syndrome with immune deficiency mondoexuq1wtf Orphanet:290839|UMLS:CN203042 owl:Class MONDO:0024912 biolink:NamedThing cat disease Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. mondoexuq1wtf Feline diseases|cat disease|diseases, Cat|disease, Feline|Feline disease|diseases, Feline|disease, Cat UMLS:C0007350|MESH:D002371 owl:Class MONDO:0009748 biolink:NamedThing hereditary sensory and autonomic neuropathy with spastic paraplegia This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. mondoexuq1wtf HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive UMLS:C4303565|UMLS:C1850395|SCTID:717827000|ICD10:G60.8|MESH:C564948|Orphanet:139578|OMIM:256840 owl:Class MONDO:0015366 biolink:NamedThing autosomal recessive hereditary sensory and autonomic neuropathy Autosomal recessive form of hereditary sensory and autonomic neuropathy. mondoexuq1wtf hereditary sensory and autonomic neuropathy, autosomal recessive UMLS:CN228933|ICD10:G60.8|Orphanet:140477 owl:Class MONDO:0004452 biolink:NamedThing childhood central nervous system germinoma A germinoma arising from the central nervous system during childhood. mondoexuq1wtf pediatric central nervous system germinoma|central nervous system germinoma of childhood|Central nervous system germinoma DOID:8078|UMLS:C1332953|NCIT:C27406 owl:Class MONDO:0004479 biolink:NamedThing malignant childhood germ cell neoplasm A malignant germ cell tumor that occurs during childhood. mondoexuq1wtf malignant childhood germ cell neoplasm|malignant pediatric germ cell neoplasm|malignant childhood germ cell tumor|malignant pediatric germ cell tumor NCIT:C6541|DOID:8149|UMLS:C1334574 owl:Class MONDO:0005799 biolink:NamedThing hookworm infectious disease Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available. mondoexuq1wtf infection, hookworm|infections, hookworm|Bunostomiases|Bunostomiasis|hookworm infection Editor note: TODO EFO:0007314 owl:Class MONDO:0005550 biolink:NamedThing infectious disease A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. mondoexuq1wtf infectious disorder|disease by infectious agent|infectious disease|communicable disease|clinical infection|infectious diseases and manifestations|infection|infectious|transmissible disease Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. ICD10:A00.B99|ICD9:079.0|EFO:0005741|ICD9:136.8|DOID:0050117|NCIT:C26726|SCTID:40733004|MESH:D003141|IDO:0000436|ICD9:136.9 owl:Class MONDO:0001041 biolink:NamedThing dentin caries A dental caries that involves the dentine. mondoexuq1wtf dentine dental caries|dental caries of dentine|dental caries extending into dentine|compound dental caries ICD10:K02.1|ICD9:521.02|UMLS:C0266846|SCTID:442551007|DOID:10461 owl:Class MONDO:0005276 biolink:NamedThing dental caries The decay of a tooth, in which it becomes softened, discolored, and/or porous. mondoexuq1wtf dental caries of smooth surface|dental caries pit and fissure|dental caries extending into pulp SCTID:80967001|ICD9:521.07|ICD10:K02.9|ICD10:K02.6|DOID:216|MESH:D003731|EFO:0003819|ICD9:521.00|UMLS:C0011334|ICD10:K02|COHD:133228|ICD9:521.06|ICD9:521.0 owl:Class MONDO:0013336 biolink:NamedThing chromosome 19p13.13 deletion syndrome 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). mondoexuq1wtf chromosome 19p13.13 deletion syndrome|monosomy 19p13.13|Del(19)(p13.13)|19p13.13 microdeletion syndrome|chromosome 19P13.13 Duplication syndrome Orphanet:357001|OMIM:613638|SCTID:764440006|ICD10:Q93.5|DOID:0060426|UMLS:C3150894|UMLS:CN204595 owl:Class MONDO:0016497 biolink:NamedThing paraparetic variant of Guillain-Barre syndrome Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. mondoexuq1wtf paraparetic variant of Guillain-Barré syndrome|paraparetic variant of GBS ICD10:G61.0|UMLS:CN201500|Orphanet:231445 owl:Class MONDO:0016495 biolink:NamedThing functional variant of Guillain-Barre syndrome mondoexuq1wtf functional variant of GBS|functional variant of Guillain-Barré syndrome ICD10:G61.0|UMLS:CN201497|Orphanet:231419 owl:Class MONDO:0044652 biolink:NamedThing optic atrophy-peripheral neuropathy-developmental delay syndrome mondoexuq1wtf Harel-Yoon syndrome Orphanet:496790 owl:Class MONDO:0018609 biolink:NamedThing syndromic hereditary optic neuropathy A hereditary optic neuropathy that is part of a larger syndrome. mondoexuq1wtf syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy Orphanet:441434|UMLS:CN237645 owl:Class MONDO:0100135 biolink:NamedThing Dravet syndrome Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. mondoexuq1wtf DS|SME|Dravet syndrome|myoclonic epilepsy, severe, of infancy This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 SCTID:230437002|UMLS:C0751122|GARD:0010430|DOID:0060171|ICD9:345.10|NCIT:C116573 https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome owl:Class MONDO:0009634 biolink:NamedThing microtia with meatal atresia and conductive deafness mondoexuq1wtf microtia with meatal atresia and conductive deafness|Gupta Patton syndrome|familial microtia and meatal atresia|microtia meatal atresia deafness dominant|familial microtia with meatal atresia and conductive deafness|microtia, meatal atresia and conductive deafness GARD:0003657|UMLS:C2931502|MESH:C537469|GARD:0000357|OMIM:251800 owl:Class MONDO:0000118 biolink:NamedThing reticulate pigment disorder mondoexuq1wtf reticulate pigment disorders OMIMPS:179850|DC:0000504 owl:Class MONDO:0006600 biolink:NamedThing pigmentation disease mondoexuq1wtf disorder of pigmentation This class covers pigmentation disorders of the skin, as well as those affecting the eyes SCTID:414032001 owl:Class MONDO:0001128 biolink:NamedThing nasal cavity cancer A malignant neoplasm involving the nasal cavity mondoexuq1wtf cancer of nasal cavity|malignant tumor of nasal cavity|malignant nasal cavity neoplasm|malignant neoplasm of nasal cavity|malignant nasal cavity tumor|nasal cavity cancer|malignant neoplasm of the nasal cavity|malignant neoplasm of nasal cavities|malignant tumor of the nasal cavity ICD9:160.0|NCIT:C4918|COHD:4177107|ICD10:C30.0|DOID:10811|UMLS:C0728864|SCTID:363422006 owl:Class MONDO:0000649 biolink:NamedThing sensory system cancer A malignant neoplasm involving the sensory system mondoexuq1wtf cancer of sensory system|malignant sensory system neoplasm|malignant neoplasm of sensory system|sensory system cancer DOID:0060116 owl:Class MONDO:0002625 biolink:NamedThing Ewing sarcoma of bone A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. mondoexuq1wtf bone tissue Ewing sarcoma|Ewing's sarcoma of bone|skeletal Ewing's tumor|bone localized Ewing's sarcoma|localized skeletal Ewing's sarcoma|bone localized Ewing sarcoma|skeletal Ewing's sarcoma|bone Ewing's sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|osseous Ewing's sarcoma|bone Ewing sarcoma|osseous Ewing's tumor|Ewing sarcoma of bone|Ewing's sarcoma, osseous NCIT:C4835|UMLS:C0585474|ICD9:170.9|DOID:3368|SCTID:307608006 owl:Class MONDO:0021123 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. mondoexuq1wtf Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C35871|UMLS:C1333481 owl:Class MONDO:0012192 biolink:NamedThing permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. mondoexuq1wtf pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis|paca Orphanet:65288|OMIM:609069|UMLS:C1836780|MESH:C563796 owl:Class MONDO:0000814 biolink:NamedThing B-cell adult acute lymphocytic leukemia An acute B-lymphoblastic leukemia occurring in adults. mondoexuq1wtf adult precursor B-lymphoblastic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|B cell adult ALL|B cell adult acute lymphocytic leukemia|B acute lymphoblastic leukemia|B cell adult acute lymphoblastic leukemia|adult B cell ALL|adult B-cell lymphocytic leukemia|B-cell adult ALL|adult B-cell ALL|adult B-cell childhood acute lymphoblastic leukemia|adult B-cell acute lymphoblastic leukemia|adult B acute lymphoblastic leukemia|adult B-lymphoblastic leukemia|adult B-cell acute lymphocytic leukemia|adult B cell acute lymphoblastic leukemia|B-cell adult acute lymphoblastic leukemia|adult B cell acute lymphocytic leukemia UMLS:C0279593|NCIT:C9143|DOID:0060592|EFO:1001935 owl:Class MONDO:0003660 biolink:NamedThing adult lymphoma A lymphoma that occurs in an adult. mondoexuq1wtf lymphoma|adult lymphoma|lymphoma of adults UMLS:C1332206|DOID:5825|NCIT:C7587 owl:Class MONDO:0003185 biolink:NamedThing adenoid cystic breast carcinoma An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. mondoexuq1wtf mammary adenocystic carcinoma|adenocystic carcinoma of the breast|mammary adenoid cystic carcinoma|adenocystic carcinoma of breast|adenoid cystic carcinoma of the breast|adenoid cystic carcinoma of breast|adenocystic breast carcinoma|adenoid cystic breast cancer|breast adenoid cystic carcinoma|adenoid cystic breast carcinoma ONCOTREE:ACBC|EFO:1000071|UMLS:C1332167|NCIT:C5130|DOID:4877 owl:Class MONDO:0006256 biolink:NamedThing invasive breast carcinoma A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. mondoexuq1wtf invasive carcinoma of breast|infiltrating carcinoma of breast|invasive carcinoma of the breast|BRCA|invasive breast carcinoma|infiltrating carcinoma of the breast|invasive breast cancer|invasive mammary carcinoma|infiltrating breast cancer|infiltrating breast carcinoma UMLS:C0853879|SCTID:713609000|ONCOTREE:BRCA|EFO:1000307|NCIT:C9245 owl:Class MONDO:0010379 biolink:NamedThing Brunner syndrome Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. mondoexuq1wtf BRNRS|antisocial behavior, susceptibility to|Brunner syndrome|monoamine oxidase A deficiency DOID:0060693|UMLS:C0796275|OMIM:300615|Orphanet:3057|SCTID:718210003|ICD10:E70.8|MESH:C563156|GARD:0003531 owl:Class MONDO:0019219 biolink:NamedThing inborn disorder of neurotransmitter metabolism and transport mondoexuq1wtf disorder of neurotransmitter metabolism and transport Orphanet:79169|UMLS:CN227586 owl:Class MONDO:0021640 biolink:NamedThing grade III glioma A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. mondoexuq1wtf WHO grade III glioma|anaplastic glioma NCIT:C127816|UMLS:C4287997 owl:Class MONDO:0100342 biolink:NamedThing malignant glioma A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. mondoexuq1wtf malignant glial neoplasm|glial cell tumor|neuroglial tumor|high grade glioma|malignant glial tumor|malignant neuroglial neoplasm|malignant glioma|malignant neuroglial tumor|glioma, malignant|high-grade glioma|glioma http://orcid.org/0000-0001-5208-3432 KEGG:05214|MedDRA:10018338|DOID:3070|ICDO:9380/3|UMLS:C0555198|NCIT:C4822 owl:Class MONDO:0011119 biolink:NamedThing iridogoniodysgenesis mondoexuq1wtf IRID Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 DOID:0050786|Orphanet:98634 owl:Class MONDO:0020217 biolink:NamedThing secondary dysgenetic glaucoma associated with neural crest cell migration anomaly mondoexuq1wtf glaucoma associated with neural crest cell migration anomaly Orphanet:98632 owl:Class MONDO:0012048 biolink:NamedThing endogenous depression Depression which is considered strictly biological. mondoexuq1wtf clinical depression|major depressive disorder|unipolar depression|MDD NCIT:C34532|DOID:1595|SCTID:300706003 owl:Class MONDO:0002009 biolink:NamedThing major depressive disorder An episode of depression lasting two or more weeks without an intervening episode of mania. mondoexuq1wtf unipolar depression|recurrent major depression|major depression|major depressive disorder|single major depressive episode ICD10:F32.9|SCTID:370143000|ICD10:F33|ICD9:296.30|MESH:D003865|ICD10:F32|NCIT:C35094|ICD9:296.20|EFO:0003761|DOID:1470|OMIM:608516|ICD9:296.2|ICD9:296.3|ICD10:F33.9|MFOMD:0000143 owl:Class MONDO:0002691 biolink:NamedThing liver cancer An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. mondoexuq1wtf primary malignant liver neoplasm|resectable malignant neoplasm of the liver|primary liver cancer|liver cancer|malignant tumor of liver|malignant neoplasm of liver, not specified as primary or secondary|cancer of liver|primary malignant neoplasm of liver|Resectable malignant neoplasm of liver|hepatic cancer|primary tumor of the liver|malignant neoplasm of liver|primary cancer of liver|hepatic neoplasm|Ca liver - primary|malignant neoplasm of liver, primary|malignant liver neoplasm|non-resectable primary hepatic malignant neoplasm|ca liver - primary|malignant hepato-biliary neoplasm DOID:3571|ICD10:C22.0|UMLS:C0854795|UMLS:C0345904|ICD10:C22.9|NCIT:C34803|UMLS:C0024620|SCTID:93870000|ICD9:155.2|ICD9:155.0|GARD:0006608 owl:Class MONDO:0004721 biolink:NamedThing liver neoplasm A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma. mondoexuq1wtf liver tumor|epithelial hepatic and intrahepatic bile duct neoplasm|liver neoplasm (disease)|liver and intrahepatic bile duct epithelial neoplasm|neoplasm of liver|tumor of liver Editor note: consider merging with liver and intrahepatic bile duct neoplasm DOID:916|SCTID:126851005|NCIT:C7106|EFO:1001513|ONCOTREE:LIVER|UMLS:C0023903 owl:Class MONDO:0021454 biolink:NamedThing benign neoplasm of eye A benign neoplasm that involves the eye. mondoexuq1wtf benign neoplasm of the eye|benign eye neoplasm|benign ocular neoplasm|benign ocular tumor|benign eye tumor|eye benign neoplasm|benign tumor of the eye|benign tumor of eye SCTID:92097004|UMLS:C0496897|ICD9:224.9|ICD9:224.8|ICD9:224.0|NCIT:C4780 owl:Class MONDO:0021220 biolink:NamedThing eye neoplasm A neoplasm (disease) that involves the eye. mondoexuq1wtf eye tumor|neoplasm of eye|eye neoplasm (disease)|tumor of eye|ocular neoplasm|ocular tumor|tumor of the eye|neoplasm of eyeball of camera-type eye|eyeball of camera-type eye tumor|neoplasm of the eye|tumor of eyeball of camera-type eye|eyeball of camera-type eye neoplasm ONCOTREE:EYE|NCIT:C3030 owl:Class MONDO:0007788 biolink:NamedThing hypertriglyceridemia, familial An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease) SCTID:34528009|OMIM:145750 owl:Class MONDO:0005347 biolink:NamedThing hypertriglyceridemia A laboratory test result indicating elevated triglyceride concentration in the blood. mondoexuq1wtf hypertriglyceridemia|hypertriglyceridemia (disease) hypertriglyceridemia (disease) EFO:0004211|HP:0002155|SCTID:302870006|UMLS:C0020557|MESH:D015228 owl:Class MONDO:0005046 biolink:NamedThing immune system disease A disorder resulting from an abnormality in the immune system. mondoexuq1wtf disease of immune system|immune disorder|immune system disease or disorder|disease or disorder of immune system|immune system disorder|disorder of immune system|immune disease|immune dysfunction SCTID:414029004|ICD9:279|ICD9:279.4|ICD9:279.19|ICD10:D89.9|ICD9:279.49|EFO:0000540|ICD9:279.9|ICD9:279.1|MESH:D007154|DOID:2914|NCIT:C3507|ICD9:279.8|ICD9:279.10 owl:Class MONDO:0015424 biolink:NamedThing lethal chondrodysplasia, Moerman type mondoexuq1wtf lethal chondrodysplasia Moerman type|Moerman-Vandenberghe-Fryns syndrome GARD:0003225|UMLS:CN199519|Orphanet:1420|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type owl:Class MONDO:0019718 biolink:NamedThing lethal chondrodysplasia mondoexuq1wtf Orphanet:93465 owl:Class MONDO:0008228 biolink:NamedThing pernicious anemia Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. mondoexuq1wtf Addison's anaemia|Addison anaemia|Biermer's anemia|anemia pernicious|pernicious anemia|intrinsic factor deficiency NCIT:C2871|SCTID:84027009|ICD10:D51.0|GARD:0012671|DOID:13381|ICD9:281.0|EFO:0005576|MESH:D000752|UMLS:C0002892|COHD:432295|OMIM:170900 owl:Class MONDO:0017307 biolink:NamedThing disorder of tyrosine metabolism mondoexuq1wtf ICD9:270.2|UMLS:CN202881|ICD10:E70.2|SCTID:37200009|Orphanet:284818 owl:Class MONDO:0019235 biolink:NamedThing inborn disorder of phenylalanin or tyrosine metabolism mondoexuq1wtf disorder of phenylalanin or tyrosine metabolism UMLS:CN227599|Orphanet:79190 owl:Class MONDO:0018481 biolink:NamedThing undifferentiated carcinoma of esophagus An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation. mondoexuq1wtf undifferentiated esophageal carcinoma|esophagus undifferentiated carcinoma|undifferentiated esophageal cancer|esophageal undifferentiated carcinoma UMLS:CN237469|ICD10:C15.3|UMLS:C2188058|NCIT:C27422|ICD10:C15.8|ICD10:C15.2|ICD10:C15.5|Orphanet:418951|ICD10:C15.4|ICD10:C15.0|ICD10:C15.1 owl:Class MONDO:0005617 biolink:NamedThing undifferentiated carcinoma A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. mondoexuq1wtf anaplastic carcinoma|carcinoma, undifferentiated|undifferentiated carcinoma|carcinoma, undifferentiated, malignant ICDO:8021/3|EFO:0006772|NCIT:C3692|UMLS:C0205698|ICDO:8020/3 owl:Class MONDO:0011810 biolink:NamedThing horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. mondoexuq1wtf gaze palsy, familial horizontal, with progressive scoliosis|HGPPS|gaze palsy, horizontal, with progressive scoliosis|ophthalmoplegia, progressive external, and scoliosis|progressive external ophthalmoplegia and scoliosis ICD10:H49.4|SCTID:702381007|ICD9:737.43|Orphanet:2744|UMLS:C1846496|MESH:C564593|GARD:0012682|OMIMPS:607313 https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis owl:Class MONDO:0020253 biolink:NamedThing syndrome with a symptomatic strabismus mondoexuq1wtf Orphanet:98683|UMLS:CN207072 owl:Class MONDO:0033543 biolink:NamedThing cone-rod synaptic disorder syndrome, congenital nonprogressive mondoexuq1wtf CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE|CRSDS OMIM:618970 owl:Class MONDO:0030894 biolink:NamedThing AMED syndrome, digenic mondoexuq1wtf AMEDS|bone marrow failure syndrome 7, digenic|AMED syndrome, digenic OMIM:619151 owl:Class MONDO:0012721 biolink:NamedThing progressive myoclonic epilepsy type 3 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. mondoexuq1wtf EPM 3|ceroid lipofuscinosis, neuronal, 14|EPM3|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|progressive myoclonic epilepsy caused by mutation in KCTD7|progressive myoclonic epilepsy due to KCTD7 deficiency|epilepsy progressive myoclonic type 3|PME type 3|progressive myoclonus epilepsy type 3|KCTD7 progressive myoclonic epilepsy|progressive myoclonic epilepsy 3 OMIM:611726|GARD:0002167|UMLS:C2673257|DOID:0111446|MESH:C567095|ICD10:G40.3|Orphanet:263516 https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 owl:Class MONDO:0018284 biolink:NamedThing congenital disorder of glycosylation with neurological involvement mondoexuq1wtf CDG with neurological involvement ICD10:E77.8|Orphanet:371047 owl:Class MONDO:0010438 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 1 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. mondoexuq1wtf paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|paroxysmal nocturnal hemoglobinuria type 1|PIGA paroxysmal nocturnal hemoglobinuria|PNH1|paroxysmal nocturnal hemoglobinuria 1|pIgA paroxysmal nocturnal hemoglobinuria OMIM:300818|UMLS:C3806670 owl:Class MONDO:0100243 biolink:NamedThing inherited paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. mondoexuq1wtf hereditary paroxysmal nocturnal hemoglobinuria http://orcid.org/0000-0001-5208-3432 OMIMPS:300818 owl:Class MONDO:0008156 biolink:NamedThing autosomal dominant osteopetrosis 2 Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). mondoexuq1wtf osteopetrosis, autosomal dominant type 2|osteosclerosis Fragilis generalisata|Albers-Schonberg disease, autosomal dominant|marble bones, autosomal dominant|autosomal dominant Albers-Schonberg disease|autosomal dominant osteopetrosis type 2|autosomal dominant osteopetrosis type II|osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant 2|OPTA2|Albers-Schönberg osteopetrosis|Albers-Schonberg osteopetrosis|osteopetrosis, autosomal dominant, type 2 DOID:0110938|Orphanet:53|GARD:0000383|ICD10:Q78.2|SCTID:725050005|UMLS:C3179239|OMIM:166600 owl:Class MONDO:0001824 biolink:NamedThing polyneuropathy A disease or disorder affecting more than one nerve. mondoexuq1wtf polyneuropathy SCTID:42345000|ICD9:357.4|ICD10:G62.9|ICD10:A69.22|ICD9:356.9|COHD:4174262|DOID:1389|MESH:D011115|NCIT:C26951|UMLS:C0152025 owl:Class MONDO:0003021 biolink:NamedThing central nervous system angiosarcoma A malignant vascular neoplasm arising from the brain, spinal cord or meninges. mondoexuq1wtf hemangiosarcoma of the central nervous system|angiosarcoma of the CNS|angiosarcoma of central nervous system|CNS hemangiosarcoma|central nervous system angiosarcoma|angiosarcoma of the central nervous system|angiosarcoma of CNS|angiosarcoma (disease) of central nervous system|central nervous system angiosarcoma (disease)|hemangiosarcoma of central nervous system|hemangiosarcoma of CNS|hemangiosarcoma of the CNS|central nervous system hemangiosarcoma|CNS angiosarcoma DOID:4504|UMLS:C1332875|NCIT:C5450 owl:Class MONDO:0016982 biolink:NamedThing angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. mondoexuq1wtf hemangiosarcoma, malignant|blood vessel sarcoma|hemangiosarcoma|angiosarcoma (disease)|vascular sarcoma|malignant hemangioendothelioma|angiosarcoma|sarcoma of blood vessel|malignant angioendothelioma angiosarcoma (disease) MedDRA:10002476|DOID:0001816|Orphanet:263413|SCTID:403977003|NCIT:C3088|UMLS:C0018923|ICDO:9120/3|ICD10:C49.9|EFO:0003967|EFO:0003968|ICD9:171.9|ONCOTREE:ANGS|MESH:D006394|HP:0200058 owl:Class MONDO:0016910 biolink:NamedThing partial deletion of the long arm of chromosome 11 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11. mondoexuq1wtf partial deletion of the long arm of chromosome type 11|loss of chromosome 11q|partial monosomy 11q|partial monosomy of chromosome 11q|monosomy 11q partial|partial monosomy of the long arm of chromosome 11|11q deletion|chromosome 11q partial deletion|monosomy 11q|Deletion 11q partial|11q monosomy|del(11q)|deletion 11q|partial deletion of chromosome 11q|chromosome 11q deletion UMLS:CN035778|GTR:AN0100480|GTR:AN0100478|NCIT:C37312|Orphanet:262092|ICD10:Q93.5|GARD:0001735|MESH:C538296|GTR:AN0100479 owl:Class MONDO:0016876 biolink:NamedThing partial deletion of chromosome 11 mondoexuq1wtf partial monosomy of chromosome 11|partial deletion of chromosome type 11 Orphanet:261816|ICD10:Q93.5 owl:Class MONDO:0015398 biolink:NamedThing hemifacial microsomia mondoexuq1wtf otomandibular syndrome|otomandibular dysostosis|Laterofacial microsomia|first branchial arch syndrome GARD:0006582|Orphanet:141136|ICD10:Q75.8|SCTID:109393007|UMLS:CN199493 owl:Class MONDO:0015397 biolink:NamedThing oculo-auriculo-vertebral spectrum mondoexuq1wtf Expanded spectrum hemifacial microsomia|first arch syndrome|OAV spectrum|facio-auriculo-vertebral spectrum|Goldenhar disease|OAV (oculoauriculovertebral) dysplasia|hemifacial microsomia|facioauriculovertebral sequence|oculoauriculovertebral syndrome|facioauriculovertebral dysplasia|Fav sequence|oculo-auriculo-vertebral dysplasia|OAVD|first and second branchial arch syndrome|HFM|oculoauriculovertebral dysplasia|oculoauriculovertebral spectrum|Goldenhar syndrome|Expanded spectrum of hemifacial microsomia|OAV dysplasia|unilateral or bilateral and asymmetric otomandibular dysplasia|OAVS UMLS:C0265240|SCTID:367462009|Orphanet:141132|ICD9:759.89|MESH:D006053|NCIT:C84740|DOID:2907|ICD10:Q87.0|GARD:0012074|Orphanet:374|GARD:0006540|OMIM:164210 https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum owl:Class MONDO:0007839 biolink:NamedThing Aase-Smith syndrome Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. mondoexuq1wtf Aase-Smith syndrome|Joint contractures with Other abnormalities|Aase-Smith syndrome 1|Aase-Smith I syndrome|Aase-Smith syndrome I|Aase-Smith syndrome type 1|hydrocephalus-cleft palate-joint contractures syndrome OMIM:147800|MedDRA:10063429|Orphanet:916|SCTID:718576001|UMLS:C0220686|GARD:0005642|MESH:C535332|ICD10:Q87.8 owl:Class MONDO:0002010 biolink:NamedThing FG syndrome FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. mondoexuq1wtf Keller syndrome|Opitz-Kaveggia syndrome|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FGS|FGS1 GARD:0002317|OMIMPS:305400|DOID:14711|Orphanet:323|SCTID:49984004|UMLS:C0220769|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome owl:Class MONDO:0004925 biolink:NamedThing chronic dacryocystitis Chronic form of dacryocystitis. mondoexuq1wtf dacryocystitis, chronic UMLS:C0149506|DOID:9937|ICD10:H04.41|ICD9:375.42|COHD:438760|SCTID:84627005 owl:Class MONDO:0004923 biolink:NamedThing chronic inflammation of lacrimal passage mondoexuq1wtf ICD10:H04.4|ICD9:375.4|UMLS:C0155239|SCTID:267653001|DOID:9935 owl:Class MONDO:0019565 biolink:NamedThing hereditary von Willebrand disease Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). mondoexuq1wtf von Willebrand's disease|congenital von willebrand disease|vascular pseudohemophilia|vascular hemophilia|von Willebrand disease|von Willebrand disorder|von Willebrand's-Jurgens' disease|hereditary von Willebrand disease (hereditary or acquired)|von Willebrand-Jrgens disease|congenital von willebrand's disease|von Willebrand-Jurgens disease MedDRA:10047715|UMLS:C0042974|ICD10:D68.0|Orphanet:903|MESH:C531844|ICD9:286.4|ICD10:D69.8|DOID:12531|GARD:0007867|SCTID:234446004 owl:Class MONDO:0016628 biolink:NamedThing hemorrhagic disorder due to a coagulation factors defect mondoexuq1wtf rare bleeding disorder due to a coagulation factors defect|rare coagulopathy due to a coagulation factor defect Orphanet:248315|UMLS:CN226979 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0008605 biolink:NamedThing triphalangeal thumb, Nonopposable mondoexuq1wtf triphalangeal thumb, Nonopposable|triphalangeal thumb non opposable|TPT|non-opposable triphalangeal thumb MESH:C536562|GARD:0005288|OMIM:190600|UMLS:C2931238 owl:Class MONDO:0001071 biolink:NamedThing intellectual disability A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. mondoexuq1wtf intellectual disabilities|mental retardation DOID:1059|ICD10:F70.F79|NCIT:C97250|SCTID:91138005|GARD:0011963|EFO:0003847|MESH:D008607|ICD9:319 owl:Class MONDO:0005517 biolink:NamedThing pharynx cancer A primary or metastatic malignant neoplasm that affects the pharynx. mondoexuq1wtf pharynx neoplasm|malignant pharyngeal neoplasm|malignant pharyngeal tumor|pharynx cancer|pharyngeal cancer|malignant neoplasm of chordate pharynx|chordate pharynx cancer|malignant tumor of pharynx|malignant neoplasm of pharynx|pharyngeal neoplasm|malignant pharynx neoplasm|malignant tumor of the pharynx|malignant chordate pharynx neoplasm|cancer of chordate pharynx|malignant pharynx tumor|cancer of pharynx MESH:D010610|DOID:0060119|NCIT:C7545|EFO:0005577 owl:Class MONDO:0021246 biolink:NamedThing pharynx neoplasm A neoplasm (disease) that involves the pharynx. mondoexuq1wtf pharynx tumor|pharyngeal tumor|neoplasm of the pharynx|tumor of the pharynx|pharyngeal neoplasms|neoplasm of pharynx|pharynx neoplasm (disease)|tumor of pharynx NCIT:C3325 owl:Class MONDO:0016294 biolink:NamedThing Hirschsprung disease-type D brachydactyly syndrome Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. mondoexuq1wtf Hirschsprung disease type d brachydactyly|Hirschsprung disease with type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly|Hirschsprung disease with type D brachydactyly ICD10:Q43.1|MESH:C538319|Orphanet:2150|GARD:0002700|OMIM:306980|UMLS:C1844017 owl:Class MONDO:0021189 biolink:NamedThing intestinal motility disease A disease that has its basis in the disruption of intestinal motility. mondoexuq1wtf disorder of intestinal motility owl:Class MONDO:0007949 biolink:NamedThing Marshall syndrome Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. mondoexuq1wtf deafness, myopia, cataract, saddle nose-Marshall type|Marshall syndrome|MRSHS Orphanet:560|NCIT:C128115|UMLS:C0265235|ICD9:759.89|OMIM:154780|SCTID:33410002|ICD10:Q87.0|DOID:0111510|MESH:C536025|GARD:0006984 owl:Class MONDO:0025514 biolink:NamedThing livedoid vasculopathy Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. mondoexuq1wtf livedo reticularis with winter ulcerations|livedoid vasculopathy|livedo vasculitis|livedo reticularis with summer ulcerations|idiopathic atrophic blanche|white atrophy|segmental hyalinizing vasculopathy|livedoid vasculitis UMLS:C0343081|ICD9:709.1|SCTID:238762002|ICD10:L95.0|ICD10CM:L95.0|GARD:0012784|ICD9CM:709.1|DOID:0040099|Orphanet:542643 owl:Class MONDO:0033481 biolink:NamedThing spinocerebellar ataxia 46 mondoexuq1wtf spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia 46|SCA46 DOID:0080288|Orphanet:589522|OMIM:617770|UMLS:CN623018 owl:Class MONDO:0000858 biolink:NamedThing neuronal intestinal dysplasia mondoexuq1wtf SCTID:253783001|UMLS:C0345244|DOID:0080072|ICD9:751.5 owl:Class MONDO:0003409 biolink:NamedThing colonic disease Pathological processes in the colon region of the large intestine (intestine, large). mondoexuq1wtf colon disease or disorder|disease of colon|colon disorder|disorder of colon|colon disease|disease or disorder of colon DOID:5353|UMLS:C0009373|SCTID:128524007|MESH:D003108 owl:Class MONDO:0002675 biolink:NamedThing neurofibrosarcoma A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) mondoexuq1wtf neurosarcoma [obs]|neurosarcoma MESH:D018319|GARD:0008211|DOID:3512 owl:Class MONDO:0016755 biolink:NamedThing neurofibroma An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. mondoexuq1wtf neurofibroma (WHO grade I)|neurofibroma, benign|neurofibroma|NFIB ICDO:9540/0|ONCOTREE:NFIB|Orphanet:252183|EFO:0000622|MESH:D009455|GARD:0007191|DOID:962|ICD9:215.9|SCTID:404029005|UMLS:C0027830|MedDRA:10029267|NCIT:C3272 https://rarediseases.info.nih.gov/diseases/7191/neurofibroma owl:Class MONDO:0009266 biolink:NamedThing Gaucher disease type II Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. mondoexuq1wtf Gaucher disease, acute neuronopathic type|Gaucher disease, type II|Gaucher disease, infantile cerebral|acute neuronopathic Gaucher disease|Gaucher disease, type 2|Gd 2|GD II|Gaucher's disease type II|infantile cerebral Gaucher disease|Gaucher disease type 2 ICD10:E75.2|OMIM:230900|Orphanet:77260|GARD:0002442|SCTID:12246008|DOID:0110958 owl:Class MONDO:0012604 biolink:NamedThing isolated microphthalmia 3 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. mondoexuq1wtf microphthalmia, isolated type 3|isolated microphthalmia caused by mutation in RAX|RAX isolated microphthalmia|microphthalmia, isolated 3|rax isolated microphthalmia|isolated microphthalmia caused by mutation in rax|isolated microphthalmia type 3|MCOP3 DOID:0060842|UMLS:C1970237|MESH:C567025|OMIM:611038|ICD10:Q11.0 owl:Class MONDO:0000062 biolink:NamedThing isolated microphthalmia A microphthalmia that is not part of a larger syndrome. mondoexuq1wtf nonsyndromic microphthalmia|microphthalmia, isolated OMIMPS:251600|DC:0000278|DOID:0080637 owl:Class MONDO:0007771 biolink:NamedThing hyperpigmentation with or without hypopigmentation, familial progressive mondoexuq1wtf macules, hereditary congenital hypopigmented and hyperpigmented|hyperpigmentation, familial progressive, 2, formerly|hyperpigmentation with or without hypopigmentation, familial progressive|melanosis, universal|FPHH|melanosis universalis hereditaria|hyperpigmentation, familial progressive, 2 OMIM:145250|UMLS:C1835039|DOID:0111373 owl:Class MONDO:0023272 biolink:NamedThing goniodysgenesis intellectual disability short stature mondoexuq1wtf GARD:0002545 https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature owl:Class MONDO:0017634 biolink:NamedThing non-infectious anterior uveitis mondoexuq1wtf non-infectious iridocyclitis Orphanet:306648|SCTID:267619000|UMLS:C0339317 owl:Class MONDO:0006651 biolink:NamedThing anterior uveitis Inflammation of the iris and anterior chamber of the eye. mondoexuq1wtf anterior uveitis|anterior uveitis (disease)|iridocyclitis anterior uveitis (disease) ICD10:H20.2|MedDRA:10002709|NCIT:C35109|ICD10:H20.1|GARD:0010941|ICD10:H20.0|HP:0012122|ICD10:H20.8|Orphanet:280886|DOID:1407|ICD10:H20.9|EFO:1000811|UMLS:C0042165|MESH:D014606|SCTID:410692006|CSP:1114-9593 owl:Class MONDO:0043346 biolink:NamedThing progressive transformation of germinal centers Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. mondoexuq1wtf PTGC|progressive transformation of Germinal centers Editor note: represents a finding in NCIT MESH:C548085|NCIT:C38408|GARD:0010712 owl:Class MONDO:0019125 biolink:NamedThing relapsing polychondritis Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. mondoexuq1wtf chondromalacia, systemic|chronic atrophic polychondritis|recurrent polychondritis EFO:1001148|Orphanet:728|ICD9:733.99|UMLS:C0032453|MedDRA:10038304|DOID:2556|MESH:D011081|SCTID:72275000|GARD:0007417|NCIT:C157268|ICD10:M94.1 https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis owl:Class MONDO:0019724 biolink:NamedThing secondary glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established mondoexuq1wtf UMLS:CN206631|Orphanet:93551 owl:Class MONDO:0006447 biolink:NamedThing testicular non-seminomatous germ cell tumor A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. mondoexuq1wtf non-seminomatous germ cell tumor of testis|testicular germ cell tumor non-seminomatous|testicular non-seminomatous germ cell tumor|non-dysgerminomatous germ cell tumor of testis|testicular non seminomatous germ cell tumor|testicular non-dysgerminomatous germ cell tumor DOID:4086|UMLS:CN204702|UMLS:C1336724|NCIT:C9313|EFO:1000570|Orphanet:363494|ICD10:C62.1|ICDO:9065/3 owl:Class MONDO:0008221 biolink:NamedThing prolidase deficiency Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. mondoexuq1wtf Imidodipeptidase deficiency|Peptidase deficiency|prolidase deficiency|hyperimidodipeptiduria UMLS:C0268532|GARD:0007473|Orphanet:742|NCIT:C85029|MESH:D056732|SCTID:410055005|DOID:0111540|OMIM:170100|ICD10:E72.8 owl:Class MONDO:0013362 biolink:NamedThing THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome mondoexuq1wtf microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|BBIS|Beaulieu-Boycott-Innes syndrome|BEAULIEU-BOYCOTT-Innes syndrome|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations OMIM:613680|UMLS:C3150939|Orphanet:363444|ICD10:Q87.0 owl:Class MONDO:0019420 biolink:NamedThing X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. mondoexuq1wtf SCTID:719011002|ICD10:Q87.8|Orphanet:85322|UMLS:CN206176 owl:Class MONDO:0021190 biolink:NamedThing DNA repair disease A disease that has its basis in the disruption of DNA repair. mondoexuq1wtf deficient DNA Repairs|DNA repair-deficiency disorder|deficiency of DNA repair|repair, deficient DNA|syndrome, chromosome instability|DNA repair deficiency|DNA repair, deficient|chromosome instability syndromes|DNA repair-deficiency|syndromes, chromosome instability|Repairs, deficient DNA|deficient DNA repair|DNA Repairs, deficient|disorders, DNA repair-deficiency|DNA repair disorder|DNA repair-deficiencies|DNA repair deficiency disorders|disorder, DNA repair-deficiency|disorder of DNA repair|chromosome instability syndrome EFO:0008499|MESH:D049914|NCIT:C7757 owl:Class MONDO:0005066 biolink:NamedThing metabolic disease A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. mondoexuq1wtf metabolic disease|metabolic process disease|metabolic disorder|disorder of metabolic process|disease of metabolism SCTID:75934005|UMLS:C0025517|DOID:0014667|ICD9:277.9|ICD9:277.8|MESH:D008659|NCIT:C3235|COHD:436670|ICD10:E88.9|ICD10:E70.E90|EFO:0000589 owl:Class MONDO:0008799 biolink:NamedThing anophthalmia/microphthalmia-esophageal atresia syndrome Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. mondoexuq1wtf SOX2-related eye disorders|microphthalmia, syndromic type 3|SOX2 anophthalmia syndrome|anophthalmia esophageal genital syndrome|anophthalmia clinical with associated anomalies|anophthalmia microphthalmia esophageal atresia|syndromic microphthalmia, type 3|microphthalmia and esophageal atresia syndrome|anophthalmia-esophageal-genital syndrome|MCOPS3|syndromic microphthalmia type 3|microphthalmia, syndromic 3|optic nerve hypoplasia and abnormalities of the central nervous system|anophthalmia, clinical, with associated anomalies|Aeg syndrome ICD9:758.5|GARD:0001443|ICD10:Q87.8|OMIM:206900|SCTID:698851003|Orphanet:77298 owl:Class MONDO:0019827 biolink:NamedThing disease associated with non-acquired combined pituitary hormone deficiency mondoexuq1wtf secondary non-acquired combined pituitary hormone deficiency Orphanet:95495|UMLS:CN206775 owl:Class MONDO:0008885 biolink:NamedThing Elsahy-Waters syndrome An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. mondoexuq1wtf hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|branchio-skeleto-genital syndrome|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|hypospadias-hypertelorism-coloboma and deafness syndrome|brachioskeletogenital syndrome|ESWS|Elsahy-Waters syndrome|BSG syndrome|ELSAHY-Waters syndrome Orphanet:1299|SCTID:719097002|MESH:C537084|MESH:C566373|Orphanet:157788|OMIM:603463|GARD:0000955|DOID:0080631|ICD10:Q87.8|OMIM:211380|UMLS:C1863870 owl:Class MONDO:0034092 biolink:NamedThing optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome mondoexuq1wtf Orphanet:543470 owl:Class MONDO:0011886 biolink:NamedThing torsion dystonia 13 DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement. mondoexuq1wtf primary dystonia with mixed phenotype|primary dystonia, DYT13 type|torsion dystonia type 13|primary torsion dystonia with predominant craniocervical or upper limb onset|DYT13|dystonia 13, torsion, autosomal dominant SCTID:719278006|DOID:0090037|ICD10:G24.1|OMIM:607671|MESH:C564354|Orphanet:98807 owl:Class MONDO:0015990 biolink:NamedThing focal, segmental or multifocal dystonia A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. mondoexuq1wtf Orphanet:1866|ICD10:G24.8|ICD10:G24.3|ICD10:G24.5|ICD10:G24.4 owl:Class MONDO:0018444 biolink:NamedThing female infertility due to fertilization defect mondoexuq1wtf female infertility due to fecundation defect|rare female infertility due to oocyte maturation defect|rare female infertility due to oocyte maturation ICD10:N97.8|Orphanet:404469 owl:Class MONDO:0021124 biolink:NamedThing female infertility Diminished or absent ability of a female to achieve conception. mondoexuq1wtf female reproductive system infertility|sterility, female|postpartum sterility|female sterility|sub-fertility, female|sterility, postpartum|female sub-fertility|sub fertility, female|subfertility, female|infertility disorder of female reproductive system|female subfertility|female infertility|female reproductive system infertility disorder ICD9:628.9|ICD10:N97|MESH:D007247|COHD:201909|SCTID:6738008|ICD9:628.8|EFO:0008560|UMLS:C0341869 owl:Class MONDO:0013116 biolink:NamedThing congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome mondoexuq1wtf myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome|myopathy with cataract and combined respiratory-chain deficiency UMLS:C2751320|ICD10:G71.3|OMIM:613076|GARD:0010522|Orphanet:330054|MESH:C567769 owl:Class MONDO:0009637 biolink:NamedThing inborn mitochondrial myopathy Myopathy caused by mitochondrial abnormalities. mondoexuq1wtf mitochondrial cytopathy|mitochondrial myopathy DOID:699|Orphanet:206966|NCIT:C101328|UMLS:C0162670|MESH:D017240|GARD:0011956|MedDRA:10027710|ICD10:G71.3 owl:Class MONDO:0022656 biolink:NamedThing cardiomyopathy spherocytosis mondoexuq1wtf GARD:0001110 https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis owl:Class MONDO:0032850 biolink:NamedThing neurooculocardiogenitourinary syndrome mondoexuq1wtf NEUROOCULOCARDIOGENITOURINARY SYNDROME|NOCGUS OMIM:618652|DOID:0111675 owl:Class MONDO:0014037 biolink:NamedThing spermatogenic failure 11 Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene. mondoexuq1wtf azoospermia caused by mutation in KLHL10|SPGF11|KLHL10 azoospermia|spermatogenic failure type 11|spermatogenic failure 11 UMLS:C3554453|OMIM:615081|DOID:0070180 owl:Class MONDO:0044696 biolink:NamedThing early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome mondoexuq1wtf PEBAS|encephalopathy, progressive, early-onset, with brain atrophy and spasticity OMIM:617669|Orphanet:500144|UMLS:CN474476 owl:Class MONDO:0010221 biolink:NamedThing CHIME syndrome CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. mondoexuq1wtf Zunich-Kaye syndrome|CHIME|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|neuroectodermal dysplasia, CHIME type|glycosylphosphatidylinositol biosynthesis defect 5|neuroectodermal syndrome, Zunich type|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|Zunich neuroectodermal syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|PIGL-CDG|congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome Orphanet:3474|OMIM:280000|GARD:0000310|UMLS:C1848392|MESH:C536729|ICD10:Q87.8|SCTID:720639008 owl:Class MONDO:0018296 biolink:NamedThing congenital disorder of glycosylation with developmental anomaly mondoexuq1wtf CDG with developmental anomaly GARD:0012782|ICD10:E77.8|Orphanet:371235 https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly owl:Class MONDO:0006187 biolink:NamedThing duodenal villous adenoma A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. mondoexuq1wtf villous adenoma, duodenum|duodenal villous adenoma|duodenum villous adenoma|villous adenoma of duodenum|duodenum adenoma|villous adenoma of the duodenum UMLS:C1333322|EFO:1000225|DOID:0050927|NCIT:C5338 owl:Class MONDO:0021375 biolink:NamedThing tumor of duodenum A neoplasm (disease) that involves the duodenum. mondoexuq1wtf duodenum tumor|duodenal tumor|neoplasm of duodenum|neoplasm of the duodenum|duodenum neoplasm (disease)|tumor of duodenum|duodenal neoplasm|duodenum neoplasm|tumor of the duodenum SCTID:126833009|NCIT:C2995 owl:Class MONDO:0019796 biolink:NamedThing acrocephalosyndactyly Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. mondoexuq1wtf acrocephalosyndactylia|ACS|acrocephalosyndactyly Orphanet:946|COHD:439134|ICD10:Q87.0|EFO:0004123|MedDRA:10000590|SCTID:268262006|DOID:12960|GARD:0000486|ICD9:755.55|NCIT:C34348 owl:Class MONDO:0015338 biolink:NamedThing syndromic craniosynostosis A craniosynostosis that is part of a larger syndrome. mondoexuq1wtf syndromic craniosynostosis|syndrome associated with craniosynostosis Orphanet:139393|UMLS:CN226660 owl:Class MONDO:0011977 biolink:NamedThing 8q22.1 microdeletion syndrome The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. mondoexuq1wtf NMLFS|monosomy 8q22.1|chromosome 8Q22.1 deletion syndrome|NABLUS mask-like facial syndrome|Nablus mask-like facial syndrome GARD:0004722|OMIM:608156|SCTID:719664004|Orphanet:178303|ICD10:Q93.5|UMLS:C1842464|MESH:C536110 owl:Class MONDO:0018889 biolink:NamedThing hyaline body myopathy mondoexuq1wtf myosin storage myopathy DOID:0111267|ICD10:G71.2|GARD:0007148|Orphanet:53698 owl:Class MONDO:0043875 biolink:NamedThing tumor lysis syndrome A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. mondoexuq1wtf syndrome, tumour lysis|syndromes, tumour lysis|syndromes, tumor lysis|syndrome, tumor lysis|tumor lysis syndrome|tumour lysis syndromes|tumor lysis syndromes|tumour lysis syndrome SCTID:277605001|MESH:D015275|EFO:1001479|UMLS:C0041364|NCIT:C3425 owl:Class MONDO:0016537 biolink:NamedThing lymphoproliferative syndrome A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). mondoexuq1wtf lymphoproliferative disorder DOID:0060704|NCIT:C9308|OMIMPS:308240|MESH:D008232|Orphanet:238510|SCTID:277466009|UMLS:CN201619 owl:Class MONDO:0003595 biolink:NamedThing sclerosing liposarcoma A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. mondoexuq1wtf DOID:5704|ICD9:171.9|NCIT:C6507|SCTID:404068003|UMLS:C0334469 owl:Class MONDO:0005103 biolink:NamedThing well-differentiated liposarcoma A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. mondoexuq1wtf well differentiated liposarcoma|WDLS|atypical lipoma|ALT|well differentiated liposarcoma of deep soft tissue|atypical lipomatous tumor|well-differentiated liposarcoma EFO:0000736|Orphanet:99971|UMLS:C1370889|ICDO:8851/3|NCIT:C4250|ICD10:C49.9|ONCOTREE:WDLS owl:Class MONDO:0002205 biolink:NamedThing vulvar melanoma A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. mondoexuq1wtf melanoma (disease) of mammalian vulva|vulvar melanoma|mammalian vulva melanoma|mammalian vulva melanoma (disease)|malignant melanoma of vulva|vulvar melanoma (disease) vulvar melanoma (disease) HP:0030418|UMLS:C0241989|DOID:2093|SCTID:254896002|NCIT:C40329 owl:Class MONDO:0006320 biolink:NamedThing non-cutaneous melanoma Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) mondoexuq1wtf non-cutaneous melanoma|extracutaneous melanoma NCIT:C8711|EFO:1000397|UMLS:C1334974 owl:Class MONDO:0006029 biolink:NamedThing cecum carcinoma A carcinoma that arises from epithelial cells of the caecum mondoexuq1wtf carcinoma of caecum|carcinoma of cecum|carcinoma of the cecum|cecum carcinoma|caecum carcinoma|cecal cancer|cecum cancer NCIT:C3491|EFO:1000021|UMLS:C0149640|DOID:1519|SCTID:255081007 owl:Class MONDO:0012504 biolink:NamedThing camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. mondoexuq1wtf CATSHLS|CATSHL syndrome|camptodactyly, tall stature, and hearing loss syndrome ICD10:Q87.2|DOID:0111160|Orphanet:85164|UMLS:C1864852|MESH:C537975|GARD:0010012|OMIM:610474 owl:Class MONDO:0019685 biolink:NamedThing FGFR3-related chondrodysplasia mondoexuq1wtf Orphanet:93420 owl:Class MONDO:0043156 biolink:NamedThing nephrotic syndrome ocular anomalies mondoexuq1wtf Glastre Cochat Bouvier syndrome|familial infantile nephrotic syndrome with ocular abnormalities UMLS:C2931188|MESH:C536403|GARD:0003945 owl:Class MONDO:0005377 biolink:NamedThing nephrotic syndrome A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. mondoexuq1wtf syndrome, nephrotic|syndromes, nephrotic|nephrosis|nephrotic syndromes|nephrotic syndrome ICD9:581|UMLS:C0027726|NCIT:C34845|EFO:0004255|SCTID:52254009|ICD9:581.9|MESH:D009404|COHD:195314|ICD10:N04|DOID:1184 owl:Class MONDO:0015726 biolink:NamedThing distal trisomy 14q mondoexuq1wtf distal trisomy type 14q|distal duplication 14q|trisomy 14qter|telomeric duplication 14q ICD10:Q92.3|MESH:C538034|UMLS:CN036934|Orphanet:1705 owl:Class MONDO:0024419 biolink:NamedThing enthesitis Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. mondoexuq1wtf enthesitis|enthesis inflammation|inflammatory enthesopathy|inflammation of enthesis NCIT:C114470|SCTID:359643005|UMLS:C1282952 owl:Class MONDO:0002183 biolink:NamedThing enthesopathy A disorder involving the attachment of a tendon or ligament to a bone mondoexuq1wtf disease of enthesis|disease or disorder of enthesis|disorder of enthesis|enthesis disease or disorder|enthesis disease UMLS:C0242490|ICD9:726.9|DOID:204|ICD9:726.90|SCTID:23680005|COHD:73008|ICD10:M77.9 owl:Class MONDO:0100194 biolink:NamedThing pregnancy associated osteoporosis A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation. mondoexuq1wtf pregnancy and lactation-associated osteoporosis http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024575 biolink:NamedThing pregnancy disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. mondoexuq1wtf disorder of pregnancy|pregnancy disorder|complication, pregnancy|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|pregnancy complication|pregnancy disease|complication of pregnancy or childbirth SCTID:173300003|MESH:D011248|NCIT:C35169 owl:Class MONDO:0021138 biolink:NamedThing bone marrow cancer Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003 mondoexuq1wtf malignant bone marrow tumor|cancer of bone marrow|malignant neoplasm of bone marrow|malignant bone marrow neoplasm|bone marrow cancer NCIT:C35501|UMLS:C2703042 owl:Class MONDO:0005374 biolink:NamedThing bone marrow neoplasm Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). mondoexuq1wtf neoplasm of bone marrow|malignant bone marrow tumor|bone marrow tumor|bone marrow neoplasm|bone marrow cancer|tumor of bone marrow|bone marrow neoplasm (disease) SCTID:414824005|ICD9:238.79|MESH:D019046|DOID:4960|NCIT:C35370|UMLS:C0282609|ICD10:D47.1 owl:Class MONDO:0023540 biolink:NamedThing Kashani-Strom-Utley syndrome mondoexuq1wtf hypoplastic pulmonary arteries and aorta with obstructive uropathy|Kashani Strom Utley syndrome|pulmonary aortic stenosis obstructive uropathy MONDO:0023539 UMLS:C2931392|GARD:0000191|Orphanet:1137|MESH:C537010 owl:Class MONDO:0009103 biolink:NamedThing diaphragmatic hernia 2 mondoexuq1wtf diaphragmatic hernia 2|DIH2 MESH:C565629|OMIM:222400 owl:Class MONDO:0005711 biolink:NamedThing congenital diaphragmatic hernia Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. mondoexuq1wtf congenital diaphragmatic defect|diaphragmatic hernia|agenesis of hemidiaphragm|unilateral agenesis of diaphragm|CDH EFO:0007216|DOID:3827|GARD:0001481|ICD10:Q79.0|UMLS:C0235833|COHD:4066010|Orphanet:2140|MedDRA:10010439|ICD10:K44.9|NCIT:C98893|ICD10:K44 owl:Class MONDO:0011776 biolink:NamedThing CINCA syndrome Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. mondoexuq1wtf Prieur-Griscelli syndrome|neonatal onset multisystem inflammatory disease|CINCA/NOMID|multisystem inflammatory disease, neonatal-onset|chronic infantile neurological cutaneous and articular syndrome|chronic infantile neurological cutaneous articular syndrome|neonatal-onset multisystem inflammatory disease|CINCA|IOMID syndrome|IOMID|Prieur Griscelli syndrome|NOMID|NOMID syndrome|infantile-onset multisystem inflammatory disease|infantile onset multisystem inflammatory disease|cryopyrin-associated periodic syndrome 3|chronic neurologic cutaneous and articular syndrome|Cryopyrin-associated periodic syndrome 3|CINCA syndrome ICD9:759.89|Orphanet:1451|SCTID:239826001|OMIM:607115|GARD:0001356|DOID:0090029|ICD10:E85.0|NCIT:C116380 owl:Class MONDO:0017259 biolink:NamedThing systemic diseases with anterior uveitis mondoexuq1wtf UMLS:CN202777|Orphanet:280926 owl:Class MONDO:0031037 biolink:NamedThing famililal cerebral cavernous malformations A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. mondoexuq1wtf hereditary brain cavernous angioma|cavernous angioma, familial|familial cerebral cavernous malformation|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|familial brain cavernous hemangioma|cerebral capillary malformations|familial cerebral cavernoma|hereditary cerebral cavernous malformation|hereditary brain cavernous hemangioma|familial brain cavernous angioma|CCM|cavernous angiomatous malformations|cavernous malformations of CNS and retina|hereditary cerebral cavernoma|cerebral cavernous malformations Orphanet:221061|UMLS:C2931263|OMIMPS:116860|ICD10:Q28.3|SCTID:717003001 owl:Class MONDO:0018143 biolink:NamedThing pyruvate carboxylase deficiency, benign type Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. mondoexuq1wtf pyruvate carboxylase deficiency type C ICD10:E74.4|UMLS:CN204540|Orphanet:353320 owl:Class MONDO:0009949 biolink:NamedThing pyruvate carboxylase deficiency disease Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. mondoexuq1wtf pyruvate carboxylase deficiency|Leigh syndrome due to pyruvate carboxylase deficiency|ataxia with lactic acidosis type 2|Leigh syndrome due to PC deficiency|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|Pc deficiency|deficiency of pyruvic carboxylase|ataxia with lactic acidosis type II|ataxia with lactic acidosis 2 DOID:3651|Orphanet:3008|SCTID:87694001|UMLS:C0034341|EFO:1001142|ICD10:E74.4|GARD:0007512|UMLS:CN203409|ICD9:277.89|UMLS:C2931141|MESH:D015324|NCIT:C85040|OMIM:266150 owl:Class MONDO:0002642 biolink:NamedThing trochlear nerve neoplasm A neoplasm involving a trochlear nerve. mondoexuq1wtf neoplasm of trochlear nerve|IVth cranial nerve tumors|trochlear nerve tumors|tumor of trochlear nerve|fourth cranial nerve tumor|fourth cranial nerve tumors|tumor of fourth cranial nerve|IVth cranial nerve neoplasms|trochlear nerve tumor|trochlear nerve neoplasm (disease)|tumor of the fourth cranial nerve|tumor of the trochlear nerve|neoplasm of the fourth cranial nerve|trochlear nerve neoplasms|fourth cranial nerve neoplasm|neoplasm of the trochlear nerve|fourth cranial nerve neoplasms|neoplasm of fourth cranial nerve ICD9:239.7|UMLS:C1263896|DOID:3421|SCTID:126970001|NCIT:C5825 owl:Class MONDO:0002633 biolink:NamedThing cranial nerve neoplasm Abnormal growth of the cells that comprise the cranial nerves. mondoexuq1wtf cranial nerve neoplasm (disease)|tumor of cranial nerve|cranial nerve neoplasm|neoplasm of the cranial nerve|cranial nerve neoplasms|neoplasm of cranial nerve|cranial nerve tumor|tumor of the cranial nerve SCTID:126966009|NCIT:C2963|DOID:338|ICD9:239.7|MESH:D003390|UMLS:C0010267 owl:Class MONDO:0014917 biolink:NamedThing developmental and epileptic encephalopathy, 42 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. mondoexuq1wtf CACNA1A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 42; EIEE42|DEE42|EIEE42|epileptic encephalopathy, early infantile, type 42|epileptic encephalopathy, early infantile, 42|early infantile epileptic encephalopathy caused by mutation in CACNA1A OMIM:617106|UMLS:C4310716|DOID:0080454 owl:Class MONDO:0018614 biolink:NamedThing undetermined early-onset epileptic encephalopathy A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. mondoexuq1wtf undetermined EOEE ICD10:G40.4|Orphanet:442835 owl:Class MONDO:0014005 biolink:NamedThing immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. mondoexuq1wtf immune Complex mediated membranoproliferative glomerulonephritis|hemolytic uremic syndrome, atypical, susceptibility to, 7|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Ahus, susceptibility to, 7|NPHS7|Mesangiocapillary glomerulonephritis type 1|nephrotic syndrome, type 7|membranoproliferative glomerulonephritis type I|Ig-mediated membranoproliferative glomerulonephritis|Immunoglobulin-mediated MPGN|Ig-mediated MPGN Orphanet:329903|NCIT:C123055|OMIM:615008|ICD10:N00.5 owl:Class MONDO:0005334 biolink:NamedThing hereditary nephritis A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. mondoexuq1wtf nephritis, familial|hereditary nephritis|familial nephritis MESH:D009394|EFO:0004128|SCTID:399340005 owl:Class MONDO:0004078 biolink:NamedThing mucinous intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that produces abundant mucin. mondoexuq1wtf mucin-producing intrahepatic cholangiocarcinoma|mucinous intrahepatic cholangiocarcinoma DOID:7024|UMLS:C1513718|NCIT:C41618 owl:Class MONDO:0002739 biolink:NamedThing extrahepatic bile duct mucinous adenocarcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. mondoexuq1wtf bile duct colloid carcinoma|colloid adenocarcinoma of extrahepatic bile duct|bile duct mucinous adenocarcinoma|colloid adenocarcinoma of bile duct|mucinous carcinoma of bile duct|mucinous bile duct adenocarcinoma|mucinous carcinoma of the bile duct|bile duct colloidal carcinoma|colloid carcinoma of bile duct|colloid bile duct carcinoma|colloid extrahepatic bile duct adenocarcinoma|mucinous adenocarcinoma of bile duct|colloidal bile duct adenocarcinoma|mucinous extrahepatic bile duct adenocarcinoma|colloidal extrahepatic bile duct adenocarcinoma|extrahepatic bile duct mucinous adenocarcinoma|colloid bile duct adenocarcinoma|colloidal carcinoma of bile duct|colloidal adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|colloidal adenocarcinoma of the bile duct|mucinous adenocarcinoma of extrahepatic bile duct|colloidal adenocarcinoma of bile duct|colloidal bile duct carcinoma|colloid adenocarcinoma of the extrahepatic bile duct|colloid adenocarcinoma of the bile duct|mucinous adenocarcinoma of the bile duct|colloid carcinoma of the bile duct|colloidal adenocarcinoma of the extrahepatic bile duct|colloidal carcinoma of the bile duct UMLS:C0861856|DOID:3698|NCIT:C5846 owl:Class MONDO:0008808 biolink:NamedThing aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. mondoexuq1wtf autosomal recessive aplasia cutis|Bronspiegel-Zelnick syndrome|aplasia cutis congenita intestinal lymphangiectasia|ACC with intestinal lymphangiectasia|aplasia cutis congenita with intestinal lymphangiectasia Orphanet:1116|MESH:C537788|GARD:0000753|OMIM:207731|SCTID:720500008 owl:Class MONDO:0015331 biolink:NamedThing malformation syndrome with skin/mucosae involvement mondoexuq1wtf UMLS:CN199361|Orphanet:139027 owl:Class MONDO:0001748 biolink:NamedThing maxillary sinus carcinoma A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. mondoexuq1wtf cancer of maxillary sinus|malignant neoplasm of antrum|carcinoma of maxillary sinus|maxillary sinus cancer|malignant neoplasm of maxillary sinus|malignant maxillary sinus tumor|malignant neoplasm of the maxillary sinus|malignant tumor of maxillary sinus|maxillary sinus carcinoma|malignant maxillary sinus neoplasm|malignant tumor of the maxillary sinus NCIT:C3540|ICD10:C31.0|SCTID:363425008|NCIT:C9332|ICD9:160.2|DOID:1357 owl:Class MONDO:0006850 biolink:NamedThing maxillary sinus neoplasm A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. mondoexuq1wtf neoplasm of the maxillofacial sinus|tumor of the maxillary sinus|neoplasm of maxillary sinus|maxillary sinus tumor|tumor of maxillary antrum|maxillary antrum tumor|maxillary sinus neoplasm (disease)|maxillary antrum neoplasm|neoplasm of the maxillary sinus|neoplasm of the maxillary antrum|neoplasm of maxillofacial sinus|tumor of the maxillary antrum|tumor of maxillary sinus|maxillofacial sinus tumor|tumor of the maxillofacial sinus|maxillary sinus neoplasm|neoplasm of maxillary antrum|maxillofacial sinus neoplasm|tumor of maxillofacial sinus MONDO:0021213 SCTID:126676009|MedDRA:10026130|UMLS:C0024958|DOID:1358|EFO:1001035|MESH:D008444|NCIT:C3219 owl:Class MONDO:0012416 biolink:NamedThing Devriendt syndrome mondoexuq1wtf Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism UMLS:C1857830|MESH:C535947|OMIM:610136|GARD:0010052 https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome owl:Class MONDO:0032841 biolink:NamedThing Usher syndrome, type 1M mondoexuq1wtf USHER SYNDROME, TYPE 1M|USH1M OMIM:618632 owl:Class MONDO:0002204 biolink:NamedThing transient arthritis Arthritis that is not permanent. mondoexuq1wtf transient arthropathy ICD10:M12.8|DOID:2092|UMLS:C0152083|ICD9:716.4|UMLS:C3887596|ICD9:716.40|SCTID:6011000119108 owl:Class MONDO:0001429 biolink:NamedThing transient arthropathy Arthropathy that is not permanent. mondoexuq1wtf transient arthropathy involving shoulder region|transient arthropathy involving lower leg|transient arthropathy involving upper arm|transient arthropathy involving multiple sites|transient arthropathy involving hand|transient arthropathy involving forearm|transient arthropathy involving pelvic region and thigh SCTID:66191007|DOID:12084|ICD9:716.48|ICD9:716.41|ICD9:716.40|NCIT:C35761|COHD:81930 owl:Class MONDO:0018207 biolink:NamedThing 2p13.2 microdeletion syndrome 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. mondoexuq1wtf Del(2)(p13.2) UMLS:CN204723|Orphanet:363680|ICD10:Q93.5 owl:Class MONDO:0009935 biolink:NamedThing pulmonary hypertension, primary, autosomal recessive mondoexuq1wtf pulmonary hypertension, primary, autosomal recessive UMLS:C1849552|OMIM:265400|MESH:C564862 owl:Class MONDO:0008347 biolink:NamedThing idiopathic and/or familial pulmonary arterial hypertension Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. mondoexuq1wtf IFPAH|pulmonary hypertension, primary, 1|pulmonary hypertension, primary, type 1|PPH1 Orphanet:422|ICD10:I27.0|UMLS:CN205068 owl:Class MONDO:0020680 biolink:NamedThing acute bronchiolitis Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus. mondoexuq1wtf Capillary pneumonia|acute Bronchiolitis|capillary pneumonia|acute capillary bronchiolitis|acute bronchiolitis ICD9:466.19|NCIT:C39659|SCTID:5505005|ICD9:466.1|UMLS:C0001311 owl:Class MONDO:0002465 biolink:NamedThing bronchiolitis Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. mondoexuq1wtf bronchiolitis (disease)|bronchiolitis|wheezy bronchitis|RSV bronchiolitis|viral bronchiolitis bronchiolitis (disease) UMLS:C0006271|MESH:D001988|ICD9:466.19|HP:0011950|DOID:2942|SCTID:4120002|NCIT:C39658 owl:Class MONDO:0004585 biolink:NamedThing polyhydramnios An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. mondoexuq1wtf polyhydramnios (disease)|polyhydramnios polyhydramnios (disease) May be obsoleted as it represents a finding HP:0001561|SCTID:86203003|DOID:8488|ICD9:657.0|ICD9:657|ICD9:657.00|MESH:D006831|ICD10:O40 owl:Class MONDO:0012563 biolink:NamedThing holoprosencephaly 9 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. mondoexuq1wtf HPE9|holoprosencephaly 9|holoprosencephaly with microphthalmia and first branchial Arch anomalies|pituitary anomalies with holoprosencephaly-like features|GLI2 holoprosencephaly|holoprosencephaly type 9|holoprosencephaly with microphthalmia and first branchial arch anomalies|holoprosencephaly caused by mutation in GLI2 DOID:0110873|UMLS:C1835819|OMIM:610829 owl:Class MONDO:0019757 biolink:NamedThing alobar holoprosencephaly Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. mondoexuq1wtf Orphanet:93925|ICD10:Q04.2|SCTID:253137003 owl:Class MONDO:0003803 biolink:NamedThing aortic valve disease A disease involving the aortic valve. mondoexuq1wtf aortic valve disease|disease or disorder of aortic valve|aortic valve disorder|disease of aortic valve|disorder of aortic valve|aortic valve disease or disorder UMLS:C1260873|ICD9:424.1|NCIT:C78650|ICD9:395|DOID:62 owl:Class MONDO:0005561 biolink:NamedThing aortic disease Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) mondoexuq1wtf disease or disorder of aorta|aortic disorder|aorta disease|aorta disease or disorder|disorder of aorta|disease of aorta|disorder of the aorta EFO:0005775|ICD9:447.9|MESH:D001018|DOID:520|SCTID:47040006|UMLS:C0003493|NCIT:C101253 owl:Class MONDO:0010756 biolink:NamedThing Von Willebrand disease, X-linked form mondoexuq1wtf Von Willebrand disease, X-linked|Von Willebrand disease, X-linked form MESH:C564041|UMLS:C1839113|OMIM:314560 owl:Class MONDO:0001739 biolink:NamedThing purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. mondoexuq1wtf acute suppurative labyrinthitis|suppurative labyrinthitis|bacterial labyrinthitis UMLS:C0155506|SCTID:24817009|DOID:13534|ICD9:386.33 owl:Class MONDO:0002008 biolink:NamedThing labyrinthitis Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. mondoexuq1wtf inner ear infection|internal ear inflammation|otitis interna|inflammation of internal ear Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. ICD9:386.3|DOID:1468|NCIT:C128369|UMLS:C0022893|DOID:3930|MESH:D007762|SCTID:23919004|ICD10:H83.0|ICD10:H83.09|COHD:74052|ICD9:386.30 owl:Class MONDO:0044098 biolink:NamedThing ovarian ectopic pregnancy An abnormal pregnancy in which the conception is implanted on the ovary. mondoexuq1wtf ectopic pregnancy of ovary|Pregnancies, ovarian|ovarian pregnancy|ovary ectopic pregnancy|ovarian Pregnancies SCTID:9899009|MESH:D065172|NCIT:C92945 owl:Class MONDO:0000755 biolink:NamedThing ectopic pregnancy An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. mondoexuq1wtf pregnancy, ectopic|extrauterine pregnancy|eccyesis MESH:D011271|DOID:0060329|ICD9:633|NCIT:C34945|ICD9:633.8|ICD9:633.90|SCTID:34801009|ICD10:O00.9|GARD:0006318|ICD9:633.9|ICD10:O00 https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy owl:Class MONDO:0043783 biolink:NamedThing sclerema neonatorum A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. mondoexuq1wtf sclerema adiposum|sclerema neonatorum|underwood's disease NCIT:C35009|SCTID:206539008|MESH:D012593 owl:Class MONDO:0013164 biolink:NamedThing beta-ureidopropionase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). mondoexuq1wtf UPB1D|BETA-ureidopropionase deficiency|Beta-alanine synthase deficiency|beta-ureidopropionase deficiency MESH:C563210|ICD9:277.6|SCTID:124511000|UMLS:C1291512|OMIM:613161|ICD10:E79.8|Orphanet:65287 owl:Class MONDO:0016327 biolink:NamedThing mitochondrial disease with hypertrophic cardiomyopathy mondoexuq1wtf Orphanet:217587|UMLS:CN201160 owl:Class MONDO:0004069 biolink:NamedThing inborn mitochondrial metabolism disorder Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. mondoexuq1wtf mitochondrial genetic disorders|mitochondrial disease|mitochondrial metabolism disease Orphanet:68380|DOID:700|MESH:D028361|GARD:0007048 https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders owl:Class MONDO:0015987 biolink:NamedThing scimitar syndrome Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. mondoexuq1wtf Epibronchial right pulmonary vein syndrome|congenital pulmonary venolobar syndrome|Halasz syndrome|hypogenetic lung syndrome SCTID:39905002|MedDRA:10051951|UMLS:C0036400|Orphanet:185|MESH:D012587|ICD10:Q26.8|NCIT:C85056|ICD9:747.49 owl:Class MONDO:0020292 biolink:NamedThing congenital anomaly of the great arteries mondoexuq1wtf congenital aorta, aortic arch or pulmonary arteries anomaly MedDRA:10061080|Orphanet:98724 owl:Class MONDO:0030998 biolink:NamedThing deafness, autosomal dominant 80 mondoexuq1wtf deafness, autosomal dominant 80|DFNA80 OMIM:619274 owl:Class MONDO:0019587 biolink:NamedThing autosomal dominant nonsyndromic deafness Autosomal dominant form of nonsyndromic deafness. mondoexuq1wtf autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant nonsyndromic hearing impairment|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant isolated sensorineural hearing loss type DFNA|nonsyndromic deafness, autosomal dominant|deafness, autosomal dominant|autosomal dominant nonsyndromic hearing loss and deafness|autosomal dominant deafness|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated deafness|autosomal dominant nonsyndromic deafness ICD10:H90.3|OMIMPS:124900|DOID:0050564|UMLS:CN043649|Orphanet:90635 owl:Class MONDO:0008695 biolink:NamedThing chorea-acanthocytosis Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. mondoexuq1wtf neuroacanthocytosis|choreaacanthocytosis|acanthocytosis with neurologic disorder|CHOREOACANTHOCYTOSIS|chorea-acanthocytosis|Levine-Critchley syndrome|choreo-acanthocytosis|Chac|chorea acanthocytosis|choreoacanthocytosis SCTID:66881004|GARD:0003956|Orphanet:2388|ICD10:E78.6|ICD9:333.0|DOID:0050766|OMIM:200150 owl:Class MONDO:0020480 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency mondoexuq1wtf combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|molybdenum cofactor deficiency|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|MOCOD Editor note: DO class is more general ICD10:E72.1|Orphanet:99732|GARD:0003705|OMIMPS:252150|DOID:0111165 owl:Class MONDO:0017760 biolink:NamedThing disorder of other vitamins and cofactors metabolism and transport mondoexuq1wtf Orphanet:309833|UMLS:CN227204 owl:Class MONDO:0007617 biolink:NamedThing Coffin-Siris syndrome 1 mondoexuq1wtf MRD12|COFFIN-SIRIS syndrome 1|intellectual disability, autosomal dominant 12|CSS1|mental retardation, autosomal dominant 12|autosomal dominant mental retardation 12|COFFIN-SIRIS syndrome|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|fifth digit syndrome|mental retardation, autosomal dominant type 12|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|CSS OMIM:609943|UMLS:CN029606|OMIM:614562|UMLS:C1864967|DOID:0070042|GARD:0009945|MESH:C538391|UMLS:C3281201|OMIM:135900 https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features owl:Class MONDO:0011217 biolink:NamedThing desmosterolosis Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. mondoexuq1wtf desmosterolosis ICD9:272.8|MESH:C566555|GARD:0010283|UMLS:C1865596|ICD10:Q87.8|OMIM:602398|SCTID:709490002|Orphanet:35107 https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis owl:Class MONDO:0013221 biolink:NamedThing Miyoshi muscular dystrophy 2 mondoexuq1wtf MIYOSHI muscular dystrophy 2|Miyoshi myopathy 2|Miyoshi muscular dystrophy 2|MMD2 UMLS:C2750077|MESH:C567646|DOID:0070200|OMIM:613318 owl:Class MONDO:0032812 biolink:NamedThing developmental and epileptic encephalopathy, 78 mondoexuq1wtf DEE78|EIEE78|epileptic encephalopathy, early infantile, 78|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 OMIM:618557 owl:Class MONDO:0009527 biolink:NamedThing lipase deficiency, combined A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. mondoexuq1wtf lipase deficiency combined|combined lipase deficiency|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|LPL and HL deficiency|LPL and HTGL deficiency|lipase deficiency, combined DOID:0111422|OMIM:246650|GARD:0010244|UMLS:C1855498|Orphanet:535453|NCIT:C126558|MESH:C535904 https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined owl:Class MONDO:0018637 biolink:NamedThing familial chylomicronemia syndrome mondoexuq1wtf ICD10:E78.3|UMLS:CN231410|DOID:0111417|Orphanet:444490 owl:Class MONDO:0008941 biolink:NamedThing hepatic fibrosis-renal cysts-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. mondoexuq1wtf cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome|Thompson Baraitser syndrome|Thompson-Baraitser syndrome MESH:C565867|Orphanet:2031|OMIM:213010|GARD:0005177 owl:Class MONDO:0015508 biolink:NamedThing genetic parenchymatous liver disease mondoexuq1wtf UMLS:CN199641|Orphanet:156604 owl:Class MONDO:0004045 biolink:NamedThing pediatric intraocular retinoblastoma Retinoblastoma during childhood that has not spread beyond the eye. mondoexuq1wtf intraocular retinoblastoma of childhood|intraocular retinoblastoma|childhood intraocular retinoblastoma|pediatric intraocular retinoblastoma NCIT:C9047|DOID:6938|UMLS:C1321869 owl:Class MONDO:0003077 biolink:NamedThing intraocular retinoblastoma Retinoblastoma restricted to local involvement. mondoexuq1wtf intraocular retinoblastoma NCIT:C7846|DOID:4653|UMLS:C0278717 owl:Class MONDO:0016565 biolink:NamedThing syndromic genetic obesity mondoexuq1wtf syndrome associated with obesity (disease)|syndromic obesity (disease) UMLS:CN226963|Orphanet:240371 owl:Class MONDO:0003332 biolink:NamedThing malignant struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). mondoexuq1wtf struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant DOID:5208|UMLS:C0334525|NCIT:C4291|ICDO:9090/3 owl:Class MONDO:0006444 biolink:NamedThing teratoma with malignant transformation A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous. mondoexuq1wtf dermoid cyst with malignant transformation|TMT|teratoma with malignant transformation ICDO:9084/3|GARD:0010646|UMLS:C0334523|ONCOTREE:TMT|EFO:1000563|NCIT:C4289 https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation owl:Class MONDO:0000577 biolink:NamedThing congenital anemia Anemia, the cause of which is present at birth. mondoexuq1wtf congenital anemia|congenital anemia (disease) UMLS:C0158995|SCTID:63565007|NCIT:C35228 owl:Class MONDO:0009332 biolink:NamedThing congenital hematological disorder A disorder of the blood that is present at birth. mondoexuq1wtf congenital hematological system disease|congenital hematological disorder NCIT:C104003 owl:Class MONDO:0007314 biolink:NamedThing chemodectoma, intraabdominal, with cutaneous angiolipomas mondoexuq1wtf abdominal chemodectomas with cutaneous angiolipomas|chemodectoma, intraabdominal, with cutaneous angiolipomas MESH:C535552|OMIM:118350|GARD:0001265|UMLS:C2930928 owl:Class MONDO:0002017 biolink:NamedThing olivopontocerebellar atrophy A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. mondoexuq1wtf Thomas' syndrome|Dejerine-Thomas syndrome|WADIA-swami syndrome|OPCA DOID:14784|NCIT:C84947|MESH:D009849|ICD10:G23.8|UMLS:C0028968|SCTID:67761004|GARD:0007250|ICD9:333.0 owl:Class MONDO:0005559 biolink:NamedThing neurodegenerative disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. mondoexuq1wtf brain degeneration|neurodegenerative disease|degenerative disorder of central nervous system|central nervous system neurodegenerative disorder|central nervous system degenerative disorder|degenerative disease|cerebral degeneration disease Editor notes: DO treats this as two diseases MESH:D019636|NCIT:C4802|EFO:0005772|DOID:1289|ICD10:G31.9|ICD9:349.89|SCTID:80690008 owl:Class MONDO:0000241 biolink:NamedThing Keshan disease A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. mondoexuq1wtf coxsackievirus infectious disease|enlarged heart and poor heart function|congestive cardiomyopathy due to selenium deficiency SCTID:46939000|UMLS:C0268095|ICD9:269.3|MESH:C536166|UMLS:C0010246|EFO:0007226|DOID:0050083|MESH:D003384|GARD:0008761 https://rarediseases.info.nih.gov/diseases/8761/keshan-disease owl:Class MONDO:0006873 biolink:NamedThing nutritional deficiency disease A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) mondoexuq1wtf malnutrition|malnourished NCIT:C3669|DOID:5113|ICD9:269.8|ICD10:E40.E46|SCTID:363246002|MESH:D003677|EFO:1001067|SCTID:70241007|ICD9:269.9|MedDRA:10046058 owl:Class MONDO:0018639 biolink:NamedThing caudal regression-sirenomelia spectrum Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. mondoexuq1wtf Orphanet:444941 owl:Class MONDO:0019054 biolink:NamedThing congenital limb malformation mondoexuq1wtf Orphanet:68378 owl:Class MONDO:0009096 biolink:NamedThing hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. mondoexuq1wtf autosomal dominant leukoencephalopathy with neuroaxonal spheroids|FPSG|leukoencephalopathy, diffuse hereditary, with spheroids|GPSC|hereditary diffuse leukoencephalopathy with axonal spheroids|adult-onset leukodystrophy with neuroaxonal spheroids|POLD|HDLS|subcortical gliosis of Neumann|familial progressive subcortical gliosis|gliosis, familial progressive subcortical|familial dementia, Neumann type|hereditary diffuse leukoencephalopathy with spheroids|neuroaxonal leukodystrophy|dementia, familial, Neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pigmentary orthochromatic leukodystrophy|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|leukoencephalopathy, hereditary diffuse, with spheroids|ALSP Orphanet:313808|OMIM:221820|ICD9:323.81|GARD:0010981|NCIT:C153289|SCTID:702427005|ICD10:E75.2|UMLS:C3711381|DOID:0080523|MESH:C580150 owl:Class MONDO:0005461 biolink:NamedThing endometrium adenocarcinoma An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma. mondoexuq1wtf endometrial adenocarcinoma|adenocarcinoma, endometrial, malignant|adenocarcinoma of uterus|endometrial adenoacanthoma|endometrioid adenoma or carcinoma|endometrioid carcinoma of endometrium|adenocarcinoma of the endometrium|adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma with squamous differentiation|endometrium adenocarcinoma|endometrioid adenomas and carcinomas (morphologic abnormality)|endometrioid adenomas and carcinomas|endometrial endometrioid adenocarcinoma|endometrioid adenoma or carcinoma NOS (morphologic abnormality) EFO:0005232|DOID:2870|UMLS:C0279763|UMLS:C1153706|NCIT:C7359 owl:Class MONDO:0002447 biolink:NamedThing endometrial carcinoma A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. mondoexuq1wtf endometrial carcinoma (disease)|endometrial cancer|carcinoma of the endometrium|endometrial carcinoma|endometrium carcinoma|carcinoma of endometrium|carcinoma, endometrial, malignant endometrial carcinoma (disease) UMLS:C0476089|ONCOTREE:UCEC|HP:0012114|DOID:2871|SCTID:254878006|NCIT:C7558 owl:Class MONDO:0005484 biolink:NamedThing colorectal adenoma An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. mondoexuq1wtf adenoma of the large intestine|colorectum adenoma|colorectal adenoma|adenoma of the large bowel|adenoma of large intestine|adenoma of large bowel|large intestine adenoma|large bowel adenoma MONDO:0000529 DOID:0050860|DOID:0050914|EFO:0005406|NCIT:C5673|SCTID:399432003|UMLS:C1302401 owl:Class MONDO:0014416 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 2 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. mondoexuq1wtf AIMAH2|ACTH-independent macronodular adrenal hyperplasia 2|primary macronodular adrenal hyperplasia|ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5|ACTH-independent macronodular adrenal hyperplasia type 2 UMLS:C4014803|OMIM:615954|DOID:0111624 owl:Class MONDO:0009049 biolink:NamedThing Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. mondoexuq1wtf corticotropin-independent macronodular adrenal hyperplasia|MMAD|primary bilateral macronodular adrenal hyperplasia|AIMAH|ACTH-independent Cushing syndrome|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease|ACTH-independent macronodular adrenocortical hyperplasia|primary macronodular adrenal hyperplasia MESH:C565662|ICD10:E24.8|UMLS:CN200644|Orphanet:189427|GARD:0010824|SCTID:720459002|UMLS:C2062388 https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia owl:Class MONDO:0008649 biolink:NamedThing venular insufficiency, systemic mondoexuq1wtf venular insufficiency, systemic MESH:C566004|UMLS:C1860465|OMIM:192700 owl:Class MONDO:0004112 biolink:NamedThing radiation cystitis Inflammation of the bladder due to irradiation. mondoexuq1wtf irradiation cystitis ICD10:N30.4|UMLS:C0156270|ICD9:595.82|NCIT:C123174|SCTID:11251000|COHD:201353|DOID:7127 owl:Class MONDO:0006032 biolink:NamedThing cystitis Inflammation of the urinary bladder. mondoexuq1wtf urinary bladder inflammation|bladder infection|inflammation of urinary bladder ICD9:595|ICD10:N30|MESH:D003556|DOID:1679|COHD:195588|ICD9:595.9|EFO:1000025|ICD9:595.89|NCIT:C26738|SCTID:38822007|ICD10:N30.9|UMLS:C0010692 owl:Class MONDO:0044788 biolink:NamedThing perihilar intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts. mondoexuq1wtf perihilar ICC|perihilar bile duct carcinoma|perihilar cholangiocarcinoma|perihilar intrahepatic cholangiocarcinoma ONCOTREE:PHCH|NCIT:C96804 owl:Class MONDO:0003210 biolink:NamedThing intrahepatic cholangiocarcinoma A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. mondoexuq1wtf intrahepatic bile duct cancer (cholangiocarcinoma)|intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma (bile duct cancer)|IHCH|intrahepatic carcinoma of the bile duct|ICC|peripheral cholangiocarcinoma|intrahepatic carcinoma of bile duct|intrahepatic Cholangiocellular carcinoma|cholangiocarcinoma, intrahepatic, malignant|intrahepatic bile duct carcinoma DOID:4928|EFO:1001961|NCIT:C35417|COHD:4001664|SCTID:109842005|UMLS:C0345905|ONCOTREE:IHCH|GARD:0006042|ICD10:C22.1 https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma owl:Class MONDO:0020831 biolink:NamedThing congenital vertebral-cardiac-renal anomalies syndrome mondoexuq1wtf vertebral, cardiac, renal, and limb defects syndrome|VCRL OMIMPS:617660|Orphanet:521438 owl:Class MONDO:0009516 biolink:NamedThing absence deformity of leg-cataract syndrome Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. mondoexuq1wtf leg, absence deformity of, with congenital cataract UMLS:C1855523|Orphanet:2310|OMIM:246000|MESH:C565442 owl:Class MONDO:0013299 biolink:NamedThing chromosome 6q11-q14 deletion syndrome mondoexuq1wtf chromosome 6Q13-q14 deletion syndrome|chromosome 6q11-q14 deletion syndrome DOID:0060423|OMIM:613544|UMLS:C3150790 owl:Class MONDO:0013863 biolink:NamedThing combined immunodeficiency due to LRBA deficiency mondoexuq1wtf Cid due to LRBA deficiency|CVID8|immunodeficiency, common variable, 8, with autoimmunity OMIM:614700|UMLS:C3553512|ICD10:D81.8|Orphanet:445018 owl:Class MONDO:0015517 biolink:NamedThing common variable immunodeficiency Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. mondoexuq1wtf secondary hypogammaglobulinemia|acquired agammaglobulinemia|hypogamma-globulinemia, acquired|primary antibody deficiency|common variable agammaglobulinemia|common variable hypogamma-globulinemia|CVID|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia|common variable immune deficiency|sporadic hypogammaglobulinemia|Immunoglobulin deficiency, late-onset|acquired hypogammaglobulinemia ICD10:D83.8|Orphanet:1572|NCIT:C26725|MESH:D017074|ICD10:D83.1|COHD:435228|SCTID:23238000|ICD9:279.06|GARD:0006140|ICD10:D83|DOID:12177|MedDRA:10021449|ICD10:D83.0|OMIMPS:607594|UMLS:C0009447|ICD10:D83.9|ICD10:D83.2 owl:Class MONDO:0017779 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. mondoexuq1wtf NAGA deficiency|disorder of alpha-N-acetylgalactosaminidase activity|alpha-N-acetylgalactosaminidase activity disease|Schindler disease SCTID:238048001|Orphanet:3137|ICD10:E77.1|ICD9:277.89 owl:Class MONDO:0016397 biolink:NamedThing lysosomal disease with epilepsy mondoexuq1wtf UMLS:CN201328|Orphanet:225681 owl:Class MONDO:0003764 biolink:NamedThing pediatric leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. mondoexuq1wtf pediatric meningeal melanoma|childhood meningeal melanoma|childhood leptomeningeal melanoma DOID:6089|NCIT:C5318|UMLS:C1332976 owl:Class MONDO:0003761 biolink:NamedThing leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes. mondoexuq1wtf leptomeningeal melanoma|meningeal melanoma|melanoma of the leptomeninges|leptomeninx melanoma|malignant melanoma of meninges|melanoma (disease) of leptomeninx|melanoma of leptomeninges|leptomeninx melanoma (disease) Editor note: TODO check meninx vs leptomeninges NCIT:C5317|SCTID:277530005|DOID:6085|UMLS:C1334386 owl:Class MONDO:0005231 biolink:NamedThing hepatitis C virus infection A viral infection caused by the hepatitis C virus. mondoexuq1wtf hepatitis C infection|NANBH|chronic hepatitis C|Hepatitis C virus hepatitis|non-A, non-B Hepatitis|Hepatitis C virus caused hepatitis|hepatitis type C|hepatitis Nona nonB|viral hepatitis C NCIT:C3098|ICD9:070.7|ICD10:B19.2|DOID:1883|MESH:D006526|ICD10:B19.20|ICD9:070.41|SCTID:128302006|UMLS:C0019196|ICD9:070.54|EFO:0003047 owl:Class MONDO:0006011 biolink:NamedThing viral hepatitis An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. mondoexuq1wtf human viral hepatitis|Viruses hepatitis|viral human hepatitis|Hepatitis viral|unspecified viral hepatitis with hepatic coma|viral hepatitis with hepatic coma|viral Hepatitis|Viruses caused hepatitis Editor note: consider adding term for viral MESH:D006524|ICD9:573.1|SCTID:3738000|COHD:4291005|ICD10:B15.B19|UMLS:C0042721|UMLS:C0019194|NCIT:C35124|MESH:D006525|EFO:0004196|DOID:1884 animal viral hepatitis owl:Class MONDO:0003885 biolink:NamedThing colorectal lipoma A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. mondoexuq1wtf colorectal lipoma|large intestine lipoma|lipoma of the large intestine|lipoma of large intestine|lipoma of the large bowel|large bowel lipoma|lipoma of large bowel UMLS:C1333114|NCIT:C5678|DOID:6460 owl:Class MONDO:0021444 biolink:NamedThing benign neoplasm of large intestine A benign neoplasm that involves the large intestine. mondoexuq1wtf benign large intestine tumor|benign large bowel tumor|colorectal tumors, benign|benign colorectal tumors|benign neoplasm of the large bowel|neoplasms, colorectal, benign|benign neoplasm of large bowel|benign colorectal tumor|benign colorectal neoplasm|tumors, colorectal, benign|benign tumor of the large intestine|benign colorectal neoplasms|benign large bowel neoplasm|benign neoplasm of the large intestine|benign tumor of large intestine|benign large intestine neoplasm|colorectal neoplasms, benign|large intestine benign neoplasm|benign tumor of large bowel|benign tumor of the large bowel NCIT:C4610|UMLS:C0347272|SCTID:92170008 owl:Class MONDO:0022889 biolink:NamedThing craniostenosis with congenital heart disease intellectual disability mondoexuq1wtf GARD:0001585 https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation owl:Class MONDO:0007078 biolink:NamedThing pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). mondoexuq1wtf Albright's hereditary osteodystrophy|AHO-PHP syndrome Ia|pseudohypoparathyroidism type 1A|Albright hereditary osteodystrophy with multiple hormone resistance|AHO|PHP 1A|pseudohypoparathyroidism, type IA|PHP1A|pseudohypoparathyroidism, type 1A|Albright hereditary osteodystrophy|Albright hereditary osteodystrophy-PHP syndrome Ia OMIM:103580|NCIT:C129721|SCTID:58833000|UMLS:C3494506|UMLS:C2931404|DOID:0080053|GARD:0005770|ICD10:E20.1|GARD:0007486|MESH:C537045|Orphanet:79443|ICD9:275.49 owl:Class MONDO:0008427 biolink:NamedThing sister chromatid exchange, frequency of mondoexuq1wtf sister chromatid exchange, frequency of|SCE, frequency of OMIM:182220 owl:Class MONDO:0004779 biolink:NamedThing epididymitis Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. mondoexuq1wtf epididymitis (disease)|epididymis|epididymal|epididymitis epididymitis (disease) MESH:D004823|HP:0000031|UMLS:C0014534|SCTID:31070006|DOID:9402|NCIT:C12328|ICD10:N45.1 owl:Class MONDO:0006639 biolink:NamedThing adrenal cortex carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. mondoexuq1wtf adrenocortical carcinoma (disease)|adrenocortical cancer|adrenocortical carcinoma|adrenal cortical tumors|adrenal cortical carcinoma|adrenal cortex adenocarcinoma|malignant adrenocortical tumor|cancer of the adrenal cortex|ACC|carcinoma, adrenocortical, malignant|adrenal cortex carcinoma|adrenal cortical adenocarcinoma|carcinoma of adrenal cortex|carcinoma of the adrenal cortex|cortical cell carcinoma|malignant neoplasm of adrenal cortex|malignant tumour of adrenal cortex|adrenal cortical carcinoma (morphologic abnormality)|adrenal cortex cancer|adenocarcinoma, adrenocortical, malignant Orphanet:1501|HP:0006744|SCTID:255035007|DOID:3948|ONCOTREE:ACC|UMLS:C0206686|ICDO:8370/3|MedDRA:10001388|GARD:0000558|EFO:1000796|ICD10:C74.0|NCIT:C9325|DOID:3959|DOID:660 owl:Class MONDO:0015077 biolink:NamedThing adrenal/paraganglial tumor mondoexuq1wtf Editor note: consider merging UMLS:CN197370|Orphanet:100091 owl:Class MONDO:0032622 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 17 mondoexuq1wtf MC1DN17|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 OMIM:618239 owl:Class MONDO:0100223 biolink:NamedThing mitochondrial complex I deficiency, nuclear type mondoexuq1wtf Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 http://orcid.org/0000-0001-5208-3432 OMIMPS:252010 owl:Class MONDO:0000964 biolink:NamedThing skin lipoma A benign or malignant adipose tissue neoplasm of the skin. mondoexuq1wtf lipoma of zone of skin|lipoma of the skin|cutaneous lipoma|skin lipoma|lipoma of face|lipoma of skin|zone of skin lipoma|cutaneous lipomatous tumor NCIT:C4616|ICD9:214.1|SCTID:255187008|ICD9:214.0|DOID:10188 owl:Class MONDO:0021440 biolink:NamedThing benign neoplasm of skin A benign neoplasm that involves the zone of skin. mondoexuq1wtf zone of skin benign neoplasm|benign tumor of skin|benign skin neoplasm|benign cutaneous tumor|benign cutaneous neoplasm|benign neoplasm of the skin|skin neoplasms, benign|benign skin tumor|benign tumor of the skin ICD9:216.8|UMLS:C0004998|NCIT:C2896|ICD9:216.9|SCTID:92384009 owl:Class MONDO:0002744 biolink:NamedThing fallopian tube mucinous adenocarcinoma An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. mondoexuq1wtf fallopian tube mucinous adenocarcinoma UMLS:C1517119|DOID:3704|NCIT:C40103 owl:Class MONDO:0002746 biolink:NamedThing fallopian tube adenocarcinoma A carcinoma that arises from glandular epithelial cells of the fallopian tube mondoexuq1wtf adenocarcinoma of fallopian tube|fallopian tube adenocarcinoma|adenocarcinoma of the fallopian tube UMLS:C1333590|DOID:3706|NCIT:C6265 owl:Class MONDO:0012035 biolink:NamedThing craniosynostosis-intracranial calcifications syndrome Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. mondoexuq1wtf Longman-Tolmie syndrome|craniosynostosis, calcification of basal ganglia, and facial dysmorphism Orphanet:52054|ICD10:Q87.0|MESH:C564241|SCTID:720816004|OMIM:608432|UMLS:C1842058 owl:Class MONDO:0012513 biolink:NamedThing maturity-onset diabetes of the young type 7 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. mondoexuq1wtf maturity-onset diabetes of the young, type 7|MODY KLF11 related|KLF11 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in KLF11|type 7 maturity-onset diabetes of the young|MODY type 7|diabetes mellitus MODY type 7|MODY7 UMLS:C1864839|DOID:0111106|OMIM:610508|SCTID:609574004|MESH:C566466|GARD:0010661 https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7 owl:Class MONDO:0018911 biolink:NamedThing maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. mondoexuq1wtf maturity onset diabetes of the young|maturity-onset diabetes of the young|MODY|Mason type diabetes|Mason-type diabetes|maturity-onset diabetes of the young (disease) maturity-onset diabetes of the young (disease) ICD10:E11.8|MESH:C562772|HP:0004904|GARD:0003697|SCTID:609561005|UMLS:C0342276|DOID:0050524|ICD10:E11.9|OMIM:606391|Orphanet:552|KEGG:04950|NCIT:C114769 owl:Class MONDO:0007987 biolink:NamedThing Kniest dysplasia Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). mondoexuq1wtf Kniest dysplasia ICD10:Q77.7|Orphanet:485|ICD9:756.9|OMIM:156550|DOID:0080045|SCTID:53974002|GARD:0006841|UMLS:C0265279|NCIT:C125594|MESH:C537207 https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia owl:Class MONDO:0015318 biolink:NamedThing Pierre Robin syndrome associated with collagen disease mondoexuq1wtf Pierre Robin sequence associated with collagen disease Orphanet:138041|UMLS:CN199289 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0007251 biolink:NamedThing campomelic dysplasia Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). mondoexuq1wtf campomelic dysplasia|Cmd1|Cmpd1/Sra1|campomelic dysplasia with autosomal Sex reversal|CMPD1|camptomelic dysplasia|Cmpd|acampomelic campomelic dysplasia|CMD|acampomelic campomelic dysplasia with autosomal Sex reversal|campomelic dwarfism Editor note: consider adding grouping class for related disorders SCTID:74928006|UMLS:C1861923|DOID:0050463|OMIM:114290|UMLS:C1861922|GARD:0010027|ICD9:733.29|NCIT:C84609|MESH:D055036|ICD10:Q87.1|Orphanet:140 owl:Class MONDO:0020042 biolink:NamedThing syndrome with 46,XY disorder of sex development mondoexuq1wtf syndrome with 46,XY DSD UMLS:CN206965|Orphanet:98087 owl:Class MONDO:0004523 biolink:NamedThing clear cell squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent clear cell component. mondoexuq1wtf clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of the skin|clear cell squamous cell carcinoma of skin NCIT:C4459|UMLS:C0345978|DOID:8288|SCTID:254652000 owl:Class MONDO:0002529 biolink:NamedThing skin squamous cell carcinoma A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated. mondoexuq1wtf squamous cell carcinoma - skin|squamous cell skin carcinoma|epidermoid carcinoma of skin|zone of skin squamous cell carcinoma|CSCC|squamous cell carcinoma of skin|skin squamous cell cancer|squamous cell carcinoma of the skin|skin squamous cell carcinoma|epidermoid skin carcinoma|cutaneous squamous cell carcinoma|epidermoid carcinoma of the skin DOID:3151|NCIT:C4819|EFO:1001927|COHD:4111921|SCTID:254651007|ONCOTREE:CSCC|UMLS:C0553723 owl:Class MONDO:0008323 biolink:NamedThing Liddle syndrome Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. mondoexuq1wtf pseudohyperaldosteronism type 1|Liddle syndrome|LIDLS|Liddle's syndrome|pseudoaldosteronism DOID:0050477|MESH:D056929|GARD:0007381|ICD10:I15.1|SCTID:707747007|OMIMPS:177200|MedDRA:10052313|MedDRA:10037113|UMLS:C0221043|Orphanet:526|NCIT:C84827 https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome owl:Class MONDO:0015512 biolink:NamedThing genetic hypertension An instance of hypertension that is caused by a modification of the individual's genome. mondoexuq1wtf genetic hypertensive disorder|genetic hypertension Orphanet:156629|UMLS:C0598428 owl:Class MONDO:0014449 biolink:NamedThing congenital analbuminemia Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). mondoexuq1wtf analbuminemia|ANALBA GARD:0013056|OMIM:616000|ICD10:R77.0|SCTID:718721006|NCIT:C124851|UMLS:C4305253|Orphanet:86816 https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia owl:Class MONDO:0020469 biolink:NamedThing 48,XYYY syndrome 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. mondoexuq1wtf 48,XYYY ICD10:Q98.8|Orphanet:99329|UMLS:C4518082|SCTID:733625003|GARD:0011985|UMLS:CN207331 owl:Class MONDO:0019924 biolink:NamedThing paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. mondoexuq1wtf paternal UPD20|UPD(20)pat|paternal uniparental disomy of chromosome type 20|paternal UPD(20) Orphanet:96194|SCTID:715736008|UMLS:C4275028|ICD10:Q99.8 owl:Class MONDO:0700086 biolink:NamedThing uniparental disomy A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. mondoexuq1wtf http://orcid.org/0000-0002-4142-7153 NCIT:C85215 owl:Class MONDO:0017799 biolink:NamedThing Meigs syndrome A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. mondoexuq1wtf Demons-Meigs syndrome|Meigs' syndrome MESH:D008539|MedDRA:10027139|SCTID:63402005|UMLS:C0025184|ICD10:D27|Orphanet:314451|ICD9:629.89|NCIT:C3223 owl:Class MONDO:0011512 biolink:NamedThing Brooke-Spiegler syndrome Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. mondoexuq1wtf Spiegler-Brooke syndrome|CYLD cutaneous syndrome|Bss|Brooke-Spiegler syndrome|BRSS Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 Orphanet:79493|GARD:0010179|ICD9:239.2|DOID:0050693|SCTID:703531009|UMLS:C1857941|OMIM:605041 owl:Class MONDO:0015950 biolink:NamedThing inherited skin tumor mondoexuq1wtf genetic skin tumor Orphanet:183487|UMLS:CN200547 owl:Class MONDO:0009093 biolink:NamedThing dermatoleukodystrophy Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. mondoexuq1wtf Dermatoleukodystrophy OMIM:221790|ICD10:E75.2|MESH:C538220|UMLS:C1857314|Orphanet:1659|SCTID:733044009|GARD:0001813 https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy owl:Class MONDO:0012090 biolink:NamedThing autosomal dominant nonsyndromic deafness 47 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21. mondoexuq1wtf autosomal dominant deafness 47|autosomal dominant nonsyndromic deafness type 47|DFNA47|deafness, autosomal dominant 47 UMLS:C1837609|ICD10:H90.3|OMIM:608652|MESH:C563885|DOID:0110570 owl:Class MONDO:0000670 biolink:NamedThing cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. mondoexuq1wtf DOID:0060140|UMLS:C0392704 owl:Class MONDO:0000667 biolink:NamedThing auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. mondoexuq1wtf DOID:0060137 owl:Class MONDO:0016127 biolink:NamedThing bacterial myositis mondoexuq1wtf SCTID:30330001|ICD10:M60.0|Orphanet:206994 owl:Class MONDO:0005113 biolink:NamedThing bacterial infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. mondoexuq1wtf bacterial infectious disease|Bacteria caused disease or disorder|bacterial disease|infection, bacterial|bacterial disorder|bacterial infection|Bacteria infectious disease|infections, bacterial|Bacteria disease or disorder UMLS:C0004623|SCTID:87628006|ICD9:041.89|ICD9:041.9|DOID:104|NCIT:C2890|MESH:D001424|COHD:432545|ICD10:A49.9|ICD9:040.89|EFO:0000771|ICD10:A49 owl:Class MONDO:0043240 biolink:NamedThing hemophilic arthropathy A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space. mondoexuq1wtf arthropathy in hemophilia|hemophilic arthropathy|hemophilic arthritis SCTID:80813006|UMLS:C0263725|GARD:0006592|NCIT:C27039 owl:Class MONDO:0005578 biolink:NamedThing arthritic joint disease An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. mondoexuq1wtf skeletal joint inflammation|inflammatory disorder of joint|arthritis|inflammation of skeletal joint Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. ICD10:M19.90|SCTID:3723001|DOID:848|NCIT:C2883|MESH:D001168|Wikipedia:Arthritis|UMLS:C0003864|EFO:0005856|COHD:4291025 owl:Class MONDO:0008794 biolink:NamedThing anhidrosis, familial generalized, with abnormal or absent sweat glands mondoexuq1wtf anhidrosis, familial generalized, with abnormal or absent sweat glands OMIM:206600|UMLS:C4225670 owl:Class MONDO:0004387 biolink:NamedThing luteoma of pregnancy A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. mondoexuq1wtf luteoma|leuteoma of pregnancy UMLS:C1517842|DOID:7880|MESH:D018311|UMLS:C0024167|NCIT:C40445 owl:Class MONDO:0010886 biolink:NamedThing 2q37 microdeletion syndrome Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. mondoexuq1wtf BDMR|brachydactyly-intellectual disability syndrome|chromosome 2q37 deletion syndrome|monosomy 2q37-qter|brachydactyly-mental retardation syndrome|Del(2)(q37)|2q37 deletion syndrome|Albright hereditary osteodystrophy type 3|deletion 2q37-qter|brachydactyly intellectual disability syndrome|deletion 2q37|brachydactyly mental retardation syndrome|Albright hereditary osteodystrophy-like syndrome ICD10:Q93.5|Orphanet:1001|UMLS:C2931817|NCIT:C129021|ICD9:758.39|GARD:0010202|SCTID:702357000|OMIM:600430|DOID:0111704|MESH:C538317 owl:Class MONDO:0024257 biolink:NamedThing hereditary motor neuron disease An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary motor neuron disease|genetic anterior horn cell disease|genetic motor neuron disease UMLS:CN207018|Orphanet:98505|SCTID:49793008 owl:Class MONDO:0024237 biolink:NamedThing inherited neurodegenerative disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. mondoexuq1wtf hereditary neurodegenerative disease|hereditary neurodegenerative disorder|genetic neurodegenerative disease NCIT:C97073|UMLS:C3273225|Orphanet:183500|UMLS:CN200549|MESH:D020271 owl:Class MONDO:0013295 biolink:NamedThing atopic dermatitis 9 An atopic dermatitis associated with variation in the region 3p24. mondoexuq1wtf ATOD9|dermatitis, ATOPIC, 9|atopic dermatitis type 9 OMIM:613519|UMLS:C3150764|DOID:0110105 owl:Class MONDO:0004980 biolink:NamedThing atopic eczema A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. mondoexuq1wtf atopic eczema|allergic dermatitis|eczema|allergic|eczematous dermatitis|allergic form of dermatitis|Atopic dermatitis|Atopic neurodermatitis|Besnier's prurigo DOID:3310|ICD9:691|EFO:0000274|NCIT:C3001|ICD10:L20.9|ICD10:L20.81|OMIMPS:603165|ICD10:L20|ICD9:691.8 owl:Class MONDO:0016833 biolink:NamedThing 14q12 microdeletion syndrome 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. mondoexuq1wtf monosomy 14q12|Del(14)(q12) UMLS:CN202163|ICD10:Q93.5|SCTID:719574007|Orphanet:261144|UMLS:C4305240 owl:Class MONDO:0016912 biolink:NamedThing partial deletion of the long arm of chromosome 14 Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. mondoexuq1wtf partial monosomy 14q|14q deletion|partial monosomy of chromosome 14q|partial monosomy of the long arm of chromosome 14|monosomy 14q|partial deletion of the long arm of chromosome type 14|chromosome 14q deletion|deletion 14q|14q monosomy|partial deletion of chromosome 14q ICD10:Q93.5|GARD:0003722|Orphanet:262110 owl:Class MONDO:0009820 biolink:NamedThing osteoporosis-pseudoglioma syndrome Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. mondoexuq1wtf osteoporosis pseudoglioma syndrome|ocular form of osteogenesis imperfecta|osteogenesis imperfecta ocular form|pseudoglioma with bone fragility|osteoporosis-pseudoglioma syndrome|Ops|osteogenesis imperfecta, ocular form|OPPG GARD:0004160|DOID:0060849|UMLS:C0432252|MESH:C536063|NCIT:C130998|Orphanet:2788|OMIM:259770|MedDRA:10052452|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome owl:Class MONDO:0010799 biolink:NamedThing aminoglycoside-induced deafness mondoexuq1wtf mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|deafness, streptomycin-induced|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|streptomycin ototoxicity|deafness, aminoglycoside-induced Orphanet:168609|DOID:0111734|MESH:C564013|UMLS:C1838854|OMIM:580000 owl:Class MONDO:0016793 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA mondoexuq1wtf OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA|mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA UMLS:CN202050|Orphanet:254776 owl:Class MONDO:0019448 biolink:NamedThing benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. mondoexuq1wtf ADCME|BAFME|FAME|FCMTE|autosomal dominant cortical myoclonus and epilepsy|familial adult myoclonic epilepsy|familial cortical myoclonic tremor and epilepsy|benign adult familial myoclonus epilepsy UMLS:CN206220|UMLS:C4273988|ICD10:G40.3|Orphanet:86814|SCTID:717225001 owl:Class MONDO:0000160 biolink:NamedThing epilepsy, familial adult myoclonic mondoexuq1wtf DC:0000624|DOID:0111689|OMIMPS:601068 owl:Class MONDO:0006015 biolink:NamedThing Waterhouse-Friderichsen syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. mondoexuq1wtf meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome|Waterhouse–Friderichsen syndrome|WFS SCTID:36102002|UMLS:C0043068|ICD10:E35.1*|ICD9:036.3|GARD:0009449|Orphanet:100067|ICD10:A39.1+|MESH:D014884|NCIT:C85225|ICD10:A39.1|MedDRA:10047847|DOID:9931|EFO:0007544 owl:Class MONDO:0021908 biolink:NamedThing aplasia cutis congenita dominant Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance. mondoexuq1wtf GARD:0000751 https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant owl:Class MONDO:0007145 biolink:NamedThing aplasia cutis congenita Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. mondoexuq1wtf aplasia cutis congenita recessive|aplasia cutis congenita (disease)|aplasia cutis congenita|congenital defect of skull and scalp|ACC|aplasia cutis congenita nonsyndromic|scalp defect, congenital|scalp defect congenital|aplasia cutis congenita, nonsyndromic aplasia cutis congenita (disease) OMIM:107600|ICD9:757.39|SCTID:35484002|Orphanet:1114|GARD:0005835|NCIT:C98822|HP:0001057|ICD10:Q84.8|GARD:0000755 owl:Class MONDO:0013365 biolink:NamedThing autosomal recessive nonsyndromic deafness 83 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. mondoexuq1wtf autosomal recessive nonsyndromic deafness type 83|deafness, autosomal recessive 83|autosomal recessive deafness 83|DFNB83 ICD10:H90.3|OMIM:613685|DOID:0110528 owl:Class MONDO:0005567 biolink:NamedThing substance withdrawal syndrome A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. mondoexuq1wtf substance withdrawal|substance withdrawal disorder|drug withdrawal|substance withdrawal syndrome|withdrawal syndrome|withdrawal disorder|drug withdrawal syndrome DOID:0060001|UMLS:C0152128|NCIT:C35046|EFO:0005800|MESH:D013375|ICD9:292.0|SCTID:363101005 owl:Class MONDO:0006396 biolink:NamedThing rectal villous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. mondoexuq1wtf rectal villous adenoma|rectum villous adenoma|villous adenoma of the rectum|villous adenoma of rectum EFO:1000506|NCIT:C4919|UMLS:C0730199|SCTID:312823001 owl:Class MONDO:0000502 biolink:NamedThing villous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. mondoexuq1wtf villous adenoma UMLS:C0206674|MESH:D018253|DOID:0050869|NCIT:C7399|ICDO:8261/0 owl:Class MONDO:0014378 biolink:NamedThing primary ciliary dyskinesia 29 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. mondoexuq1wtf ciliary dyskinesia, primary, 29|primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia caused by mutation in CCNO|ciliary dyskinesia, primary, type 29|primary ciliary dyskinesia type 29|CCNO primary ciliary dyskinesia|ciliary dyskinesia, primary, 29, without situs inversus|CILD29 OMIM:615872|ICD10:Q34.8|UMLS:C4014534|DOID:0110600 owl:Class MONDO:0016575 biolink:NamedThing primary ciliary dyskinesia Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). mondoexuq1wtf kartageners syndrome|PCD|bronchiectasis, chronic sinusitis and dextrocardia syndrome|ciliary dyskinesia primary|ciliary motility disorder|Kartagener syndrome|Primary ciliary dyskinesia and situs inversus|Dextrocardia bronchiectasis and sinusitis|Primary ciliary dyskinesia, Kartagener type|Immotile cilia syndrome, Kartagener type|Dextrocardia-bronchiectasis-sinusitis syndrome|immotile ciliary syndrome|Siewert syndrome|ICS|Kartagener's syndrome Editor note: we deliberately merge two MESHes here Orphanet:244|SCTID:86204009|NCIT:C84797|GARD:0006815|ICD10:Q34.8|DOID:9562|DOID:0050144|SCTID:42402006|UMLS:C0008780|MESH:D007619|OMIMPS:244400|MESH:D002925|MedDRA:10069713|GARD:0004484 owl:Class MONDO:0016674 biolink:NamedThing 46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. mondoexuq1wtf 46,XY partial testicular dysgenesis|46,XY PGD Editor note: todo - make disjoint with complete form (some classes inherit from both) ICD10:Q56.1|SCTID:725045004|UMLS:C4510744|Orphanet:251510 owl:Class MONDO:0017764 biolink:NamedThing disorder of zinc metabolism mondoexuq1wtf disorder of zinc metabolism and transport ICD10:E83.2|Orphanet:309845|MedDRA:10048260|ICD9:275.8|SCTID:46727001 owl:Class MONDO:0003988 biolink:NamedThing sternum lymphoma A rare lymphoma that arises from the bone or soft tissue of the sternum. mondoexuq1wtf lymphoma of the sternum|sternum lymphoma|primary sternal lymphoma|sternal lymphoma|lymphoma of sternum NCIT:C6716|DOID:6762|UMLS:C1336504 owl:Class MONDO:0017814 biolink:NamedThing primary bone lymphoma A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. mondoexuq1wtf lymphoma of the bone|primary lymphoma of bone|lymphoma of bone tissue|bone lymphoma|lymphoma of bone|primary lymphoma of the bone|bone tissue lymphoma MONDO:0003986 UMLS:C1332582|Orphanet:314684|SCTID:766935007|NCIT:C6620|ICD10:C85.7|DOID:6759|ICD10:C85,7 owl:Class MONDO:0018014 biolink:NamedThing transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. mondoexuq1wtf transient neonatal glutaric aciduria type 2|transient neonatal MADD|transient neonatal MAD deficiency|transient neonatal glutaric acidemia type 2 SCTID:723552005|ICD10:E71.3|Orphanet:329942|UMLS:CN204228 owl:Class MONDO:0017714 biolink:NamedThing acyl-CoA dehydrogenase deficiency mondoexuq1wtf Orphanet:309120|SCTID:82319005|UMLS:C0268635|ICD10:E71.3 owl:Class MONDO:0007781 biolink:NamedThing essential hypertension, genetic An instance of essential hypertension that is caused by a modification of the individual's genome. mondoexuq1wtf hypertension, essential|Eht|genetic essential hypertension OMIM:145500 owl:Class MONDO:0000521 biolink:NamedThing salivary gland carcinoma A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. mondoexuq1wtf saliva-secreting gland carcinoma|salivary gland carcinoma|carcinoma of the salivary gland|salivary carcinoma|carcinoma of salivary gland|carcinoma of saliva-secreting gland|salivary gland cancer UMLS:C0948750|NCIT:C9272|ONCOTREE:SACA|DOID:0050904 owl:Class MONDO:0004669 biolink:NamedThing salivary gland cancer A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. mondoexuq1wtf malignant neoplasm of the salivary gland|malignant salivary gland tumor|cancer of saliva-secreting gland|cancer of salivary gland|malignant neoplasm of saliva-secreting gland|salivary gland cancer|cancer of the salivary gland|malignant tumor of salivary gland|malignant neoplasm of salivary gland|malignant saliva-secreting gland neoplasm|saliva-secreting gland cancer|malignant salivary gland neoplasm|malignant neoplasm of salivary gland duct|malignant neoplasm of major salivary gland|malignant tumor of the salivary gland DOID:8850|SCTID:255072001|MESH:D012468|ICD10:C08|COHD:4181333|ICD9:142.8|NCIT:C3811 owl:Class MONDO:0000226 biolink:NamedThing mineral metabolism disease mondoexuq1wtf disorder of mineral metabolism|disease of mineral metabolism ICD10:E83|ICD9:275.9|SCTID:45744005|ICD9:275.8 owl:Class MONDO:0001143 biolink:NamedThing paralytic strabismus mondoexuq1wtf paralytic squint|incomitant dissociation DOID:10863|ICD10:H49.9|SCTID:400942002|ICD10:H49|HP:0031775|UMLS:C0152221|ICD9:378.5|ICD9:378.50|COHD:381862 owl:Class MONDO:0003432 biolink:NamedThing strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. mondoexuq1wtf strabismus|squint COHD:4329707|ICD9:378.7|ICD9:378.40|NCIT:C35040|UMLS:C0038379|ICD10:H50.89|SCTID:22066006|ICD10:H50.8|DOID:540 owl:Class MONDO:0021096 biolink:NamedThing papillary epithelial neoplasm mondoexuq1wtf papillary epithelial neoplasm UMLS:C1335324|NCIT:C8429 owl:Class MONDO:0019399 biolink:NamedThing Isaac syndrome Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. mondoexuq1wtf neuromyotonia|Quantal squander syndrome|Isaac-Mertens syndrome|continuous muscle fiber activity syndrome|Isaacs' syndrome|Isaac's-Merten's syndrome|peripheral nerve hyperexcitability|acquired neuromyotonia GARD:0006793|UMLS:CN206101|SCTID:305719002|UMLS:C0751919|Orphanet:84142|ICD10:G71.1 owl:Class MONDO:0016375 biolink:NamedThing acquired peripheral movement disorder mondoexuq1wtf Orphanet:221114|UMLS:CN226913 owl:Class MONDO:0018590 biolink:NamedThing ABeta2M amyloidosis mondoexuq1wtf Beta2-microglobulinic amyloidosis Orphanet:439246 owl:Class MONDO:0019065 biolink:NamedThing amyloidosis A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. mondoexuq1wtf amyloidosis|amyloid|amyloidoses|amyloidosis (disease)|amyloid disease amyloidosis (disease) Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes ICD9:277.30|DOID:9120|UMLS:C0002726|EFO:1001875|Orphanet:69|ICD10:E85.9|ONCOTREE:MIDDA|HP:0011034|MESH:D000686|MedDRA:10002022|ICD10:E85.4|COHD:432595|ICD10:E85.3|ICD9:277.3|ICD10:E85.8|ICD10:E85.2|ICD10:E85|SCTID:17602002|ICD10:E85.0|ICD10:E85.1|NCIT:C2868 owl:Class MONDO:0014541 biolink:NamedThing motor developmental delay due to 14q32.2 paternally expressed gene defect A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. mondoexuq1wtf maternal uniparental disomy chromosome 14 syndrome|mUPD14 syndrome|uniparental disomy, maternal, chromosome 14|TEMPLE syndrome OMIM:616222|NCIT:C120409|DOID:0111713|UMLS:C4015558|Orphanet:254516 owl:Class MONDO:0011225 biolink:NamedThing severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. mondoexuq1wtf SCID due to DCLRE1C deficiency|severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency due to artemis deficiency|Athabaskan Severe combined immunodeficiency|SCID due to artemis deficiency|SCID, Athabaskan type|artemis deficiency|RS-SCID|severe combined immunodeficiency due to DCLRE1C deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabaskan-type|severe combined immunodeficiency, partial|severe combined immunodeficiency, Athabaskan type|DCLRE1C severe combined immunodeficiency (disease)|severe combined immunodeficiency, Athabascan type|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|SCID due to ARTEMIS deficiency|SCID, Athabascan type SCTID:715982006|DOID:0090012|OMIM:602450|GARD:0009987|DOID:0060006|ICD10:D81.1|Orphanet:275 https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation owl:Class MONDO:0017855 biolink:NamedThing T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. mondoexuq1wtf T-B- SCID ICD10:D81.1|Orphanet:317419 owl:Class MONDO:0012010 biolink:NamedThing coronary heart disease, susceptibility to, 4 mondoexuq1wtf coronary heart disease, susceptibility to, 4|Chds4|coronary heart disease, susceptibility to, type 4 UMLS:C1842258|OMIM:608318 owl:Class MONDO:0012279 biolink:NamedThing congenital muscular dystrophy merosin-positive The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. mondoexuq1wtf muscular dystrophy, congenital, merosin-POSITIVE OMIM:609456|DOID:0110638|UMLS:C1836133|MESH:C563716|GARD:0003855 https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive owl:Class MONDO:0019950 biolink:NamedThing congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. mondoexuq1wtf CMD|MDC|congenital MD Orphanet:97242|UMLS:C0699743|ICD10:G71.2|EFO:0006819|SCTID:240059009|DOID:0050557|GARD:0009138|ICD9:359.0 owl:Class MONDO:0013794 biolink:NamedThing thrombocythemia 3 Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene. mondoexuq1wtf JAK2 essential thrombocythemia|thrombocytosis 3|THCYT3|essential thrombocythemia caused by mutation in JAK2|thrombocythemia type 3|thrombocythemia 3 OMIM:614521|UMLS:C3281125 owl:Class MONDO:0007488 biolink:NamedThing Lewy body dementia A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. mondoexuq1wtf diffuse Lewy body disease with gaze palsy|diffuse Lewy body disease|DLB|Lewy body variant of Alzheimer disease|Senile dementia of the Lewy body type|dementia with Lewy bodies|Lewy body disease|Lewy body dementia|dementia, Lewy body ICD9:331.82|COHD:380701|OMIM:127750|SCTID:312991009|EFO:0006792|UMLS:C0752347|ICD10:G31.83|DOID:12217|GARD:0003243|NCIT:C84826 owl:Class MONDO:0001627 biolink:NamedThing dementia Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. mondoexuq1wtf dementia (disease)|dementia dementia (disease) MESH:D003704|COHD:4182210|NCIT:C4786|DOID:1307|SCTID:52448006|ICD9:290.8|GARD:0011946|ICD9:294.1|ICD9:294.8 owl:Class MONDO:0021660 biolink:NamedThing deep seated dermatophytosis A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. mondoexuq1wtf deep seated dermatophytosis UMLS:C1395264|NCIT:C35073 owl:Class MONDO:0021201 biolink:NamedThing skin infection An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. mondoexuq1wtf skin infection UMLS:C0037278|SCTID:19824006|NCIT:C35025 owl:Class MONDO:0018003 biolink:NamedThing limbic encephalitis with DPP6 antibodies mondoexuq1wtf limbic encephalitis with DPPX antibodies|limbic encephalitis with dipeptidyl-peptidase 6 antibodies ICD10:G13.1|Orphanet:329341 owl:Class MONDO:0015594 biolink:NamedThing non-paraneoplastic limbic encephalitis mondoexuq1wtf Orphanet:163918 owl:Class MONDO:0003531 biolink:NamedThing papillary eccrine carcinoma mondoexuq1wtf digital papillary adenocarcinoma|eccrine papillary adenocarcinoma|papillary apocrine fibroadenoma|papillary eccrine adenoma|papillary eccrine carcinoma|tubular apocrine adenoma DOID:5591|SCTID:254709009|UMLS:C1367774|NCIT:C27254 owl:Class MONDO:0002512 biolink:NamedThing papillary adenocarcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. mondoexuq1wtf papillary adenocarcinoma NOS (morphologic abnormality)|papillary adenocarcinoma (morphologic abnormality)|infiltrating papillary adenocarcinoma|papillary adenocarcinoma|adenocarcinoma, papillary, malignant|infiltrating and papillary adenocarcinoma UMLS:C1321863|NCIT:C2853|MESH:D000231|ICDO:8260/3|DOID:3112|UMLS:C0001420 owl:Class MONDO:0001235 biolink:NamedThing appendix cancer A malignant neoplasm involving the vermiform appendix mondoexuq1wtf malignant neoplasm of the appendix|malignant tumor of appendix|malignant appendix neoplasm|vermiform appendix cancer|malignant vermiform appendix neoplasm|cancer of vermiform appendix|malignant neoplasm of appendix vermiformis|malignant appendix tumor|cancer of the appendix|malignant tumor of the appendix|malignant neoplasm of appendix|malignant neoplasm of vermiform appendix ICD10:C18.1|NCIT:C9333|UMLS:C0496779|ICD9:153.5|DOID:11239|COHD:443383|SCTID:363411007 owl:Class MONDO:0011510 biolink:NamedThing Bohring-Opitz syndrome Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. mondoexuq1wtf BOPS|Opitz trigonocephaly-like syndrome|BOHRING-Opitz syndrome|Bos syndrome|Oberklaid-Danks syndrome|Bohring syndrome|C-like syndrome|Bohring-Opitz syndrome NCIT:C131533|MESH:C537419|OMIM:605039|SCTID:720565000|ICD10:Q87.8|GARD:0010140|Orphanet:97297|UMLS:C0796232 https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome owl:Class MONDO:0003586 biolink:NamedThing esophagus liposarcoma A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. mondoexuq1wtf esophageal liposarcoma|liposarcoma of esophagus|esophagus liposarcoma|liposarcoma of the esophagus UMLS:C1333456|NCIT:C5705|DOID:5694 owl:Class MONDO:0014647 biolink:NamedThing developmental and epileptic encephalopathy, 50 mondoexuq1wtf carbohydrate deficient glycoprotein syndrome type Iz|DEE50|congenital disorder of glycosylation, type Iz, formerly|CAD-CDG|epileptic encephalopathy, early infantile, 50|EIEE50|CDG syndrome type Iz|congenital disorder of glycosylation, type Iz|CDG1Z|CDG-Iz|congenital disorder of glycosylation type 1z ICD10:E77.8|UMLS:C4225320|Orphanet:448010|DOID:0080419|OMIM:616457 owl:Class MONDO:0005500 biolink:NamedThing congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. mondoexuq1wtf congenital disorders of glycosylation, type I|ALG6-CDG|DPM1-CDG|MPDU1-CDG|DPM2-CDG (CDG-1u)|ALG2-CDG (CDG-1i)|ALG6-CDG (CDG-1c)|DPM3-CDG|SRD5A3-CDG (CDG-1q)|ALG11-CDG (CDG-1p)|DPAGT1-CDG (CDG-1j)|SRD5A3-CDG|ALG1-CDG (CDG-1k)|RFT1-CDG (CDG-1n)|DPM2-CDG|DPM3-CDG (CDG-1o)|ALG3-CDG|ALG9-CDG (CDG-1l)|DOLK-CDG|MPI-CDG|DOLK-CDG (CDG-1m)|ALG8-CDG (CDG-1h)|PMM2-CDG (CDG-1a)|ALG11-CDG|ALG3-CDG (CDG-1d)|ALG1-CDG|PMM2-CDG|MPDU1-CDG (CDG-1f)|DPM1-CDG (CDG-1e)|DPAGT1-CDG|ALG12-CDG (CDG-1g)|ALG8-CDG|RFT1-CDG|ALG12-CDG|ALG2-CDG|MPI-CDG (CDG-1b)|ALG9-CDG DOID:0050570|OMIMPS:212065|EFO:0005545 owl:Class MONDO:0004822 biolink:NamedThing bronchiectasis Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. mondoexuq1wtf Polynesian bronchiectasis ICD10:J47|OMIMPS:211400|UMLS:C0006267|NCIT:C84475|DOID:9563|ICD10:J47.9|SCTID:12295008|COHD:256449|ICD9:494|MESH:D001987 owl:Class MONDO:0013259 biolink:NamedThing Oguchi disease-2 Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene. mondoexuq1wtf night blindness, congenital stationary, Oguchi type 2|congenital stationary night blindness Oguchi type 2|CSNBO2|Oguchi disease 2|Oguchi disease caused by mutation in GRK1|Oguchi disease type 2|GRK1 Oguchi disease UMLS:C3150678|DOID:0110713|OMIM:613411 owl:Class MONDO:0019152 biolink:NamedThing Oguchi disease Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon. mondoexuq1wtf Oguchi syndrome|stationary night blindness, Oguchi type|congenital stationary night blindness, Oguchi type MESH:C537743|Orphanet:75382|ICD10:H53.6|GARD:0010118 https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease owl:Class MONDO:0017857 biolink:NamedThing spina bifida-hypospadias syndrome Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. mondoexuq1wtf ICD10:Q05.9|UMLS:CN203872|Orphanet:3176 owl:Class MONDO:0021282 biolink:NamedThing malignant teratoma of testis A malignant teratoma that involves the testis. mondoexuq1wtf immature teratoma of testis|testicular malignant teratoma|testis malignant teratoma|malignant testicular teratoma|testicular immature teratoma|malignant teratoma of the testis|immature teratoma of the testis|immature testicular teratoma SCTID:416769008|UMLS:C1334154|ICD9:186.9|NCIT:C6353 owl:Class MONDO:0003510 biolink:NamedThing malignant testicular germ cell tumor A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. mondoexuq1wtf malignant germ cell neoplasm of testis|malignant germ cell tumor of the testis|malignant testicular germ cell tumor|testicular germ cell cancer|testicular malignant germ cell cancer|testicular cancer (excluding germ cell or trophoblastic cancer)|malignant testicular germ cell neoplasm|testicular ca. (no germ/tropho.)|testicular cancer|malignant germ cell tumor of testis|malignant germ cell neoplasm of the testis UMLS:C0855197|DOID:5556|NCIT:C9063|ICD9:186.9|SCTID:713646001 owl:Class MONDO:0002984 biolink:NamedThing reticulohistiocytic granuloma A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 mondoexuq1wtf Reticulohistiocytoma|solitary histiocytoma|reticulohistiocytic granuloma (morphologic abnormality)|solitary Reticulohistiocytoma|solitary reticulohistiocytosis|solitary reticulohistiocytoma NCIT:C3356|DOID:4394|ICD9:277.89|SCTID:404162004|GARD:0012967|UMLS:C0035290 owl:Class MONDO:0002637 biolink:NamedThing histiocytosis A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. mondoexuq1wtf histiocytic infiltrate|histiocytic and dendritic cell neoplasms|histiocytic syndrome|hand Schuller Christian disease|chronic histiocytosis X ONCOTREE:HDCN|NCIT:C3106|DOID:3405|MESH:D015614|UMLS:C0019618 owl:Class MONDO:0014673 biolink:NamedThing cataract 44 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. mondoexuq1wtf LSS early-onset non-syndromic cataract|CTRCT44|early-onset non-syndromic cataract caused by mutation in LSS|cataract type 44|total early-onset cataract|cataract 44 DOID:0110267|UMLS:C4225300|ICD10:Q12.0|OMIM:616509 owl:Class MONDO:0011060 biolink:NamedThing early-onset non-syndromic cataract Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. mondoexuq1wtf cataract, age-related nuclear|nuclear sclerosis of the lens Not in the OMIM series. UMLS:C1832423|ICD10:Q12.0|OMIM:601371|Orphanet:91492 owl:Class MONDO:0015001 biolink:NamedThing atrial fibrillation, familial, 18 Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene. mondoexuq1wtf atrial fibrillation, familial, 18; ATFB18|atrial fibrillation, familial, 18|ATFB18|atrial fibrillation, familial, type 18|familial atrial fibrillation caused by mutation in MYL4|MYL4 familial atrial fibrillation UMLS:C4310636|OMIM:617280 owl:Class MONDO:0018054 biolink:NamedThing familial atrial fibrillation An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. mondoexuq1wtf atrial fibrillation autosomal dominant|atrial fibrillation, familial|hereditary atrial fibrillation (disease)|autosomal dominant atrial fibrillation|ATFB Editor note: DO def states this as being in ATFB but this is not correct GARD:0009740|SCTID:715395008|DOID:0050650|OMIMPS:608583|UMLS:CN204347|Orphanet:334|ICD10:I48.9 owl:Class MONDO:0020001 biolink:NamedThing respiratory or thoracic malformation mondoexuq1wtf Orphanet:97957 owl:Class MONDO:0022780 biolink:NamedThing cleft lip palate pituitary deficiency mondoexuq1wtf GARD:0001382 https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency owl:Class MONDO:0003113 biolink:NamedThing extragonadal germ cell cancer A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. mondoexuq1wtf malignant extragonadal germ cell tumor|extragonadal germ cell malignant tumor|malignant neoplasm of extragonadal germ cell|malignant neoplasm of the extragonadal germ cell|malignant tumor of the extragonadal germ cell|malignant tumor of extragonadal germ cell|tumor of extragonadal germ cell|extragonadal germ cell tumor, malignant DOID:4717|UMLS:C1334581|NCIT:C8881 owl:Class MONDO:0018201 biolink:NamedThing extragonadal germ cell tumor A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). mondoexuq1wtf extragonadal germ cell neoplasm|tumor of extragonadal germ cell|tumor of the extragonadal germ cell|neoplasm of the extragonadal germ cell|neoplasm of extragonadal germ cell|extragonadal germ cell tumor|primary extragonadal germ cell tumor|extragonadal germ cell neoplasms UMLS:C0262963|GARD:0009325|NCIT:C3918|Orphanet:363579|UMLS:CN204711 owl:Class MONDO:0014150 biolink:NamedThing childhood onset epileptic encephalopathy An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. mondoexuq1wtf epileptic encephalopathy, childhood-onset|CHD2 myoclonic encephalopathy|childhood-onset epileptic encephalopathy|CHCHD10-related disorders|EEOC GARD:0013197|DOID:0060475|UMLS:C3809278|OMIM:615369 owl:Class MONDO:0004608 biolink:NamedThing oropharynx cancer A primary or metastatic malignant neoplasm that affects the oropharynx. mondoexuq1wtf oropharyngeal cancer|primary malignant neoplasm of lateral wall of oropharynx|malignant tumor of posterior wall of oropharynx|malignant oropharyngeal neoplasm|oropharyngeal carcinoma|malignant tumour of mesopharynx|malignant neoplasm of oropharynx|malignant neoplasm of lateral wall of oropharynx|malignant neoplasm of junctional region of oropharynx|oropharynx cancer|malignant neoplasm of the oropharynx|malignant neoplasm of posterior wall of oropharynx|malignant oropharyngeal tumor|malignant oropharynx neoplasm|malignant tumor of oropharynx|cancer of oropharynx|malignant tumor of the oropharynx ICD9:146.9|ICD10:C10.3|ICD10:C10.2|UMLS:C3165521|MESH:D009959|DOID:8557|UMLS:C2349952|NCIT:C7398|EFO:1001931|UMLS:C0153390|ICD9:146.7|UMLS:C0153382|ICD10:C10|ICD9:146.5|GARD:0009358|ICD10:C10.9|ICD9:146|UMLS:C0153389|ICD10:C10.8|ICD9:146.6 owl:Class MONDO:0054740 biolink:NamedThing blepharocheilodontic syndrome 1 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene. mondoexuq1wtf ectropion, Inferior, with cleft 51P and/Or palate|BCDS1|blepharo-cheilo-odontic syndrome caused by mutation in CDH1|CDH1 blepharo-cheilo-odontic syndrome|Lagophthalmia with bilateral cleft 51P and palate|elschnig syndrome|BCD syndrome|clefting, ectropion, and conical teeth|blepharocheilodontic syndrome 1|blepharocheilodontic syndrome OMIM:119580|DOID:0080345 owl:Class MONDO:0007339 biolink:NamedThing blepharocheilodontic syndrome An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. mondoexuq1wtf ectropion inferior cleft lip and or palate|BCDS1|blepharocheilodontic syndrome|clefting, ectropion, and conical teeth|lagophthalmia with bilateral cleft lip and palate|ectropion, inferior, with cleft lip and/or palate|Elschnig syndrome|blepharo-cheilo-odontic syndrome|clefting-ectropion-conical teeth syndrome|Elsching syndrome|ectropion inferior-cleft lip and or palate syndrome|BCD syndrome|blepharocheilodontic syndrome 1|BCDS|blepharo-cheilo-dontic syndrome|ectropion inferior-cleft lip and/or palate syndrome|lagophthalmia-cleft lip and palate syndrome Orphanet:1997|UMLS:C1861536|ICD10:Q87.8|GARD:0002071|MESH:C536188|OMIMPS:119580|SCTID:717911008|DOID:0080344 https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate owl:Class MONDO:0022736 biolink:NamedThing occupational lung disease mondoexuq1wtf Occupational respiratory disease|Occupational inhalation disease|Occupational pulmonary disease|Occupational lung disease|Occupational lung disorder ICD9:508.9|GARD:0012752|UMLS:C0264421|SCTID:86157004 owl:Class MONDO:0005275 biolink:NamedThing lung disease A disease involving the lung. mondoexuq1wtf pulmonary disorders|lung disease or disorder|pulmonary disease|disorder of lung|lung disease|lung disorder|pulmonary disorder|lung disorders|disease or disorder of lung|disease of lung|pulmonary diseases ICD10:J98.4|NCIT:C3198|EFO:0003818|MESH:D008171|SCTID:19829001|DOID:850|ICD9:518.89 owl:Class MONDO:0006037 biolink:NamedThing hydrolethalus syndrome Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. mondoexuq1wtf HLS|hydrolethalus|Salonen-Herva-Norio syndrome DOID:0050779|Orphanet:2189|EFO:1000033|GARD:0006683|SCTID:721232000|MESH:C536079|UMLS:C2931104|ICD10:Q87.8|OMIMPS:236680 https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome owl:Class MONDO:0018307 biolink:NamedThing neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. mondoexuq1wtf NBIA Editor note: check relationship to PKAN OMIMPS:234200|GARD:0011899|ICD10:G23.0|MESH:C538421|DC:0000320|DOID:0110734|Orphanet:385 owl:Class MONDO:0002283 biolink:NamedThing neuroaxonal dystrophy A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) mondoexuq1wtf MESH:D019150|UMLS:C0338473|SCTID:230365004|DOID:2367|NCIT:C161542 owl:Class MONDO:0003053 biolink:NamedThing choroid plexus meningioma A meningioma that affects the choroid plexus. mondoexuq1wtf meningioma (disease) of choroid plexus|meningioma of the choroid plexus|meningioma of choroid plexus|choroid plexus meningioma|choroid plexus meningioma (disease)|choroid meningioma (morphologic abnormality) UMLS:C0431118|NCIT:C4719|DOID:4584 owl:Class MONDO:0002681 biolink:NamedThing choroid plexus cancer A malignant neoplasm involving the choroid plexus mondoexuq1wtf malignant choroid plexus neoplasms|malignant neoplasm of the choroid plexus|malignant tumor of choroid plexus|malignant neoplasm of choroid plexus|choroid plexus cancer|choroid plexus neoplasm|cancer of choroid plexus|malignant choroid plexus tumor|malignant choroid plexus neoplasm|tumor of choroid plexus|malignant tumor of the choroid plexus|malignant choroid plexus tumors Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 NCIT:C4533|DOID:3540 owl:Class MONDO:0018606 biolink:NamedThing extensive peripapillary myelinated nerve fibers mondoexuq1wtf Orphanet:440724|UMLS:CN237640 owl:Class MONDO:0002135 biolink:NamedThing optic nerve disease A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). mondoexuq1wtf optic nerve disorder|disease of cranial nerve II|disease or disorder of cranial nerve II|cranial nerve II disease or disorder|second cranial nerve disorder|optic neuropathy|disorder of the second nerve|cranial nerve II disease|disorder of cranial nerve II NCIT:C79698|MESH:D009901|UMLS:C0029132|DOID:1891|ICD9:377.9|COHD:374360|ICD9:377.49|SCTID:77157004 owl:Class MONDO:0100040 biolink:NamedThing FOXG1 disorder A monogenic disease that has material basis in mutation in the FOXG1 gene. mondoexuq1wtf inherited genetic disease caused by mutation in FOXG1|FOXG1 inherited genetic disease 2018-06-29 19:29:48+00:00 Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. owl:Class MONDO:0000594 biolink:NamedThing pervasive developmental disorder A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. mondoexuq1wtf pervasive development disorder|pervasive child development disorders|pervasive development disorders ICD9:299.80|SCTID:35919005|NCIT:C97179|MESH:D002659|DOID:0060040 owl:Class MONDO:0032666 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 4 mondoexuq1wtf EV4|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM:618307 owl:Class MONDO:0009176 biolink:NamedThing epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. mondoexuq1wtf Lewandowsky-Lutz dysplasia|EV|ever|epidermodysplasia verruciformis|Lutz-Lewandowsky epidermodysplasia verruciformis|Lewandowsky-Lutz syndrome UMLS:C0014522|Orphanet:302|DOID:13777|GARD:0006357|NCIT:C126877|OMIM:226400|MESH:D004819|ICD9:757.8|SCTID:19138001|OMIMPS:226400|ICD9:078.19|ICD10:B07|MedDRA:10052339 https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis owl:Class MONDO:0007679 biolink:NamedThing GMS syndrome GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. mondoexuq1wtf Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--intellectual disability--short stature syndrome|GMS syndrome|Goniodysgenesis--mental retardation--short stature syndrome UMLS:C1841854|OMIM:138770|ICD10:Q87.8|MESH:C564214|GARD:0002523|Orphanet:2090|SCTID:716024001 https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome owl:Class MONDO:0020520 biolink:NamedThing adult pulmonary Langerhans cell histiocytosis Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions. mondoexuq1wtf pulmonary Langerhans cell histiocytosis|PLCH|pulmonary histiocytosis X|pulmonary eosinophilic granuloma NCIT:C142833|Orphanet:99874|SCTID:328611000119105|UMLS:C1455705|ICD10:C96.5|UMLS:C3161104|ICD10:J84.82 owl:Class MONDO:0020517 biolink:NamedThing eosinophilic granuloma A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. mondoexuq1wtf unifocal Langerhans cell histiocytosis|chronic and localized Langerhans cell histiocytosis|eosinophilic granuloma|Monostotic Langerhans cell histiocytosis|eosinophilic xanthomatous granuloma|chronic unifocal Langerhans cell histiocytosis ICD10:C96.6|COHD:4044708|ICDO:9752/1|Orphanet:99871|SCTID:129000002|UMLS:C0014461|NCIT:C3016|MESH:D004803|ICD9:277.89|MedDRA:10014956 owl:Class MONDO:0016004 biolink:NamedThing aminopterin/methotrexate embryofetopathy Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. mondoexuq1wtf aminopterin syndrome|fetal methotrexate syndrome|aminopterin embryopathy syndrome|aminopterin fetopathy syndrome|fetal aminopterin syndrome ICD10:Q86.8|NCIT:C98928|SCTID:65986000|ICD9:759.89|MedDRA:10071183|Orphanet:1908|UMLS:C0432367|GARD:0002294 owl:Class MONDO:0015323 biolink:NamedThing teratogenic Pierre Robin syndrome mondoexuq1wtf teratogenic Pierre Robin sequence Orphanet:138059|UMLS:CN199294 owl:Class MONDO:0002856 biolink:NamedThing gallbladder rhabdomyosarcoma A rhabdomyosarcoma that is located in the gallbladder. mondoexuq1wtf gallbladder rhabdomyosarcoma|rhabdomyosarcoma of gallbladder|rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma (disease)|gall bladder rhabdomyosarcoma|rhabdomyosarcoma of the gallbladder NCIT:C5839|UMLS:C1333756|DOID:4057 owl:Class MONDO:0002857 biolink:NamedThing gallbladder sarcoma A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. mondoexuq1wtf gall bladder sarcoma|sarcoma of the gallbladder|sarcoma of gallbladder|malignant mesenchymal tumor of gallbladder|sarcoma of gall bladder|gallbladder sarcoma NCIT:C5736|UMLS:C1333757|DOID:4058 owl:Class MONDO:0024331 biolink:NamedThing colorectal carcinoma A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. mondoexuq1wtf CRC|carcinoma of the large intestine|colorectal (colon or rectal) cancer|colorectum carcinoma|large bowel carcinoma|carcinoma of colorectum|colorectal carcinoma|large intestine carcinoma|carcinoma of the large bowel|large bowel cancer|cancer of large bowel|cancer of the large intestine|carcinoma of large bowel|colorectal cancer|cancer of large intestine|carcinoma of large intestine|large intestine cancer|cancer of the large bowel DOID:0080199|UMLS:CN221574|NCIT:C2955 owl:Class MONDO:0013520 biolink:NamedThing dyskeratosis congenita, autosomal recessive 3 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. mondoexuq1wtf dyskeratosis congenita, autosomal recessive 3|autosomal recessive dyskeratosis congenita 3|DKCB3|dyskeratosis congenita, autosomal recessive type 3 UMLS:C3151442|OMIM:613988|DOID:0070019 owl:Class MONDO:0020640 biolink:NamedThing autoimmune encephalitis Inflammation of the brain secondary to an immune response triggered by the body itself. mondoexuq1wtf autoimmune encephalitis SCTID:95643007|NCIT:C122414|GARD:0011979 owl:Class MONDO:0000995 biolink:NamedThing familial periodic paralysis A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. mondoexuq1wtf normokalemic periodic paralyses|periodic paralyses, normokalemic|paralyses, normokalemic periodic|periodic paralysis, familial|paralysis, normokalemic periodic|familial periodic paralysis|periodic paralysis, normokalemic|periodic paralyses, familial|genetic periodic paralysis|hereditary periodic paralysis (disease)|paralysis, familial periodic|normokalemic periodic paralysis|familial periodic paralyses GARD:0006422|ICD10:G72.3|NCIT:C84709|DOID:1029|Orphanet:371433|SCTID:267607008|MESH:D010245 https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis owl:Class MONDO:0006825 biolink:NamedThing kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) mondoexuq1wtf kuru encephalopathy ICD10:A81.8|Orphanet:454745|UMLS:C0022802|COHD:444373|EFO:1001008|MedDRA:10023497|GARD:0007617|SCTID:86188000|DOID:648|ICD10:A81.81|ICD9:046.0|MESH:D007729 https://rarediseases.info.nih.gov/diseases/7617/kuru owl:Class MONDO:0005429 biolink:NamedThing prion disease A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. mondoexuq1wtf spongiform encephalopathy|prion induced disorder|prion protein disease|prion disease pathway Editor note: check relationship to spongiform encephalopathy NCIT:C27585 NCIT:C128346|EFO:0004720|DOID:649|MESH:D017096|KEGG:05020|ICD9:046.19|ICD10:A81.9|SCTID:230284004 owl:Class MONDO:0011695 biolink:NamedThing melanoma, uveal, susceptibility to, 1 mondoexuq1wtf melanoma, uveal, susceptibility to, type 1|Uvm1|melanoma, uveal, susceptibility to, 1 OMIM:606660 owl:Class MONDO:0006486 biolink:NamedThing uveal melanoma A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. mondoexuq1wtf uveal melanoma|uvea melanoma (disease)|uvea melanoma|choroidal melanoma|melanoma, uveal, malignant|melanoma (disease) of uvea|melanoma of uvea|iris melanoma|melanoma of the uvea|intraocular melanoma ICD10:C69.3|UMLS:C0220633|MedDRA:10061252|EFO:1000616|Orphanet:39044|GARD:0008621|MESH:C536494|NCIT:C7712|DOID:6039|ONCOTREE:UM owl:Class MONDO:0010925 biolink:NamedThing velo-facial-skeletal syndrome Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. mondoexuq1wtf VELOFACIOSKELETAL syndrome Orphanet:3424|MESH:C536536|OMIM:600736|ICD10:Q87.0|GARD:0005469|UMLS:C1833380|SCTID:763616002 owl:Class MONDO:0011519 biolink:NamedThing autosomal dominant nonsyndromic deafness 23 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene. mondoexuq1wtf autosomal dominant nonsyndromic deafness caused by mutation in SIX1|autosomal dominant deafness 23|DFNA 23|autosomal dominant nonsyndromic deafness type 23|deafness, autosomal dominant type 23|DFNA23|deafness, autosomal dominant nonsyndromic sensorineural 23|SIX1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 23 MESH:C565357|GARD:0001708|OMIM:605192|DOID:0110553|UMLS:C1854594|ICD10:H90.3 owl:Class MONDO:0025420 biolink:NamedThing gastroenteritis, transmissible, of swine A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. mondoexuq1wtf transmissible Gastroenteritides, porcine|gastroenteritis, transmissible porcine|transmissible gastroenteritis, porcine|transmissible porcine Gastroenteritides|Gastroenteritides, transmissible porcine|porcine transmissible Gastroenteritides|porcine transmissible gastroenteritis|gastroenteritis, transmissible, porcine|transmissible gastroenteritis of swine|porcine Gastroenteritides, transmissible|transmissible porcine gastroenteritis|Gastroenteritides, porcine transmissible|Gastroenteritides, swine transmissible|gastroenteritis, porcine transmissible|gastroenteritis, swine transmissible|transmissible Gastroenteritides, swine|transmissible gastroenteritis, swine|swine transmissible Gastroenteritides|porcine gastroenteritis, transmissible|swine transmissible gastroenteritis MESH:D005761|UMLS:C0017162 owl:Class MONDO:0024990 biolink:NamedThing swine disease Diseases of domestic swine and of the wild boar of the genus Sus. mondoexuq1wtf diseases, swine|disease, swine|swine disease MESH:D013553|UMLS:C0039006 owl:Class MONDO:0007404 biolink:NamedThing Cri-du-chat syndrome Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. mondoexuq1wtf 5p- syndrome|Cat-Cry syndrome|chromosome 5 short arm deletion syndrome|deletion 5p|5p partial monosomy syndrome|chromosome 5P deletion syndrome|Cri du chat syndrome|monosomy 5p|chromosome 5p- syndrome|chromosome 5p deletion syndrome|Cat Cry syndrome|monosomy type 5p|5p deletion syndrome|5p minus syndrome|Cri-du-chat syndrome MESH:D003410|DOID:12580|ICD9:758.39|UMLS:CN776901|ICD9:758.31|NCIT:C34518|OMIM:123450|ICD10:Q93.4|GARD:0006213|MedDRA:10011385|Orphanet:281|SCTID:70173007|UMLS:C0010314 owl:Class MONDO:0007855 biolink:NamedThing keratosis, familial actinic mondoexuq1wtf keratosis, familial actinic MESH:C567190|UMLS:C2675099|OMIM:148390 owl:Class MONDO:0016904 biolink:NamedThing partial deletion of the long arm of chromosome 5 mondoexuq1wtf partial monosomy of the long arm of chromosome 5|partial deletion of the long arm of chromosome type 5|partial monosomy of chromosome 5q|partial deletion of chromosome 5q Orphanet:262038|ICD10:Q93.5 owl:Class MONDO:0016870 biolink:NamedThing partial deletion of chromosome 5 mondoexuq1wtf partial monosomy of chromosome 5|partial deletion of chromosome type 5 Orphanet:261786 owl:Class MONDO:0021921 biolink:NamedThing Arnold stickler bourne syndrome mondoexuq1wtf corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy GARD:0000366|MESH:C537431|UMLS:C2931492 https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome owl:Class MONDO:0005240 biolink:NamedThing kidney disease A disease involving the kidney. mondoexuq1wtf kidney disease|disease or disorder of kidney|disease of kidney|disorder of kidney|renal disease|renal disorder|nephropathy|kidney disease or disorder|kidney disorder ICD9:583.81|UMLS:C0022658|ICD10:N08|DOID:557|NCIT:C3149|EFO:0003086|MESH:D007674|SCTID:90708001|ICD10:N28.9 owl:Class MONDO:0003549 biolink:NamedThing adenosquamous bile duct carcinoma An adenosquamous carcinoma that arises from the bile ducts. mondoexuq1wtf adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma|adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct DOID:5624|UMLS:C0861854 owl:Class MONDO:0056815 biolink:NamedThing liver adenosquamous carcinoma A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. mondoexuq1wtf liver adenosquamous cancer|liver adenosquamous carcinoma UMLS:C3898586|NCIT:C118630 owl:Class MONDO:0010611 biolink:NamedThing X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. mondoexuq1wtf X-linked hydrocephalus|HSAS1|X-linked HSAS|hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked acqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius|Bickers-Adams syndrome|hydrocephalus, X-linked|HYCX|aqueductal stenosis, X-linked|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|HSAS|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|XLAS OMIM:307000|SCTID:71779008|ICD10:Q03.0|MESH:C536078|Orphanet:2182|GARD:0000434 owl:Class MONDO:0016349 biolink:NamedThing congenital hydrocephalus Hydrocephalus that is present at birth. mondoexuq1wtf HYC3|congenital hydrocephalus ICD10:Q03.8|MedDRA:10010506|ICD10:Q03.1|NCIT:C98876|Orphanet:2185|COHD:438244|ICD10:Q03|UMLS:C0020256|ICD10:Q03.0|ICD10:Q03.9|OMIMPS:236600|SCTID:47032000 owl:Class MONDO:0011934 biolink:NamedThing dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). mondoexuq1wtf dermatofibrosarcoma protuberans|dermatofibrosarcoma|giant cell fibroblastoma|metastatic dermatofibrosarcoma protuberans (subtype)|familial dermatofibrosarcoma protuberans (subtype)|DFSP Orphanet:31112|OMIM:607907|MESH:D018223|DOID:3507|NCIT:C4683|MedDRA:10057070|ICD10:C49.9|GARD:0009569|ICDO:8832/3|SCTID:276799004|UMLS:C0392784|ONCOTREE:DFSP https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans owl:Class MONDO:0006297 biolink:NamedThing maxillary sinus adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. mondoexuq1wtf adenoid cystic carcinoma of the maxillary sinus|maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of maxillary sinus DOID:7198|UMLS:C1334643|NCIT:C6239|EFO:1000365 owl:Class MONDO:0017552 biolink:NamedThing humero-ulnar synostosis, unilateral mondoexuq1wtf humero-ulnar fusion, unilateral ICD10:Q74.0|Orphanet:295213 owl:Class MONDO:0019782 biolink:NamedThing humero-ulnar synostosis mondoexuq1wtf humero-ulnar fusion Orphanet:94056|ICD10:Q74.0 owl:Class MONDO:0018248 biolink:NamedThing intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. mondoexuq1wtf Der(8)t(8;12) UMLS:CN204818|Orphanet:369950|ICD10:Q87.8 owl:Class MONDO:0024611 biolink:NamedThing orbit neoplasm A benign or malignant neoplasm that affects the orbit. mondoexuq1wtf orbital tumor|orbit tumor|orbit neoplasm|neoplasm of orbit|orbit of skull neoplasm|orbital neoplasms|orbital neoplasm|tumor of orbit of skull|tumor of orbit|neoplasm of the orbit|orbit of skull tumor|neoplasm of orbit of skull|tumor of the orbit NCIT:C3290 owl:Class MONDO:0002022 biolink:NamedThing disease of orbital region A disease that involves the orbital region. mondoexuq1wtf ophthalmological disorder|disease of orbital region|orbital region disease|disorder of eye region|disease or disorder of orbital region|disorder of orbital region|eye and adnexa disease|orbital region disease or disorder DOID:1492|SCTID:371409005|ICD10:H00.H59|ICD9:362.10|ICD10:H35.00 owl:Class MONDO:0016541 biolink:NamedThing acquired secondary polycythemia An instance of secondary polycythemia that is acquired during the lifetime of the individual. mondoexuq1wtf acquired secondary erythrocytosis|acquired secondary polycythemia ICD10:D75.1|Orphanet:238547 owl:Class MONDO:0002438 biolink:NamedThing acquired polycythemia An instance of polycythemia that is acquired during the lifetime of the individual. mondoexuq1wtf acquired polycythemia|acquired polycythemia (disease)|polycythemia, secondary ICD9:289.0|DOID:2834|ICD10:D75.1 owl:Class MONDO:0011932 biolink:NamedThing hypotrichosis 6 Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene. mondoexuq1wtf hypotrichosis 6|hypotrichosis, localized, autosomal recessive|hypotrichosis, localized, autosomal recessive 1|monilethrix-like hypotrichosis|hypotrichosis caused by mutation in DSG4|hypotrichosis type 6|autosomal recessive localized hypotrichosis|Lah1|Htl|DSG4 hypotrichosis|HYPT6 UMLS:C1842839|MESH:C564312|DOID:0110703|OMIM:607903 owl:Class MONDO:0018914 biolink:NamedThing hypotrichosis simplex Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. mondoexuq1wtf hereditary hypotrichosis simplex SCTID:723362004|UMLS:C1854310|Orphanet:55654|MESH:C537160|GARD:0009170|ICD10:L65.8 owl:Class MONDO:0060752 biolink:NamedThing neurodevelopmental disorder with spasticity and poor growth mondoexuq1wtf neurodevelopmental disorder with spasticity and poor growth|NEDSG OMIM:618076 owl:Class MONDO:0016827 biolink:NamedThing myopathy-growth delay-intellectual disability-hypospadias syndrome mondoexuq1wtf ICD10:G71.8|Orphanet:2601|UMLS:CN230273 owl:Class MONDO:0010535 biolink:NamedThing Bazex-Dupre-Christol syndrome Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. mondoexuq1wtf follicular atrophoderma-basal cell carcinoma syndrome|Bazex-Dupré-Christol syndrome|BZX|BDCS|follicular atrophoderma and basal cell carcinomas|Bazex-Dupre-Christol syndrome|Bazex syndrome|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome Orphanet:113|SCTID:254820002|ICD10:L98.8|OMIM:301845|GARD:0000838 owl:Class MONDO:0019108 biolink:NamedThing silent sinus syndrome Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. mondoexuq1wtf Imploding antrum syndrome UMLS:C3698095|ICD9:478.19|Orphanet:71276|SCTID:699802009 owl:Class MONDO:0021181 biolink:NamedThing inherited blood coagulation disorder Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. mondoexuq1wtf hereditary blood coagulation disorders|coagulation disorder, hereditary|inherited coagulation disorder|inherited coagulation disorders|coagulation disorder, inherited|hereditary coagulation disorders|hereditary coagulation disorder|coagulation disorders, hereditary|inherited blood coagulation disorders|inherited blood coagulation disease|rare genetic coagulation disorder|hereditary blood coagulation disease|coagulation disorders, inherited DOID:2214|UMLS:CN226819|UMLS:C0852077|Orphanet:183654|MESH:D025861 owl:Class MONDO:0010719 biolink:NamedThing radiation sensitivity of natural killer activity mondoexuq1wtf radiation sensitivity of natural killer activity|X-Ray Nk sensitivity UMLS:C1839408|MESH:C564066|OMIM:312210 owl:Class MONDO:0014488 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 5 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. mondoexuq1wtf diabetes mellitus, noninsulin-dependent, type 5|type 2 diabetes mellitus caused by mutation in TBC1D4|NIDDM5|diabetes mellitus, noninsulin-dependent, 5|TBC1D4 type 2 diabetes mellitus UMLS:C4015183|OMIM:616087 owl:Class MONDO:0010993 biolink:NamedThing Harrod syndrome Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. mondoexuq1wtf Harrod syndrome|Harrod Doman Keele syndrome|craniofacial digital genital anomalies|cranio-facio-digito-genital syndrome MESH:C535635|SCTID:716089008|OMIM:601095|Orphanet:2115|GARD:0002601|ICD10:Q87.8|UMLS:C0795970 owl:Class MONDO:0009001 biolink:NamedThing macular coloboma-cleft palate-hallux valgus syndrome Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. mondoexuq1wtf coloboma of macula and skeletal anomalies UMLS:C1857619|Orphanet:91494|SCTID:722463001|MESH:C565686|ICD10:Q87.8|OMIM:216800 owl:Class MONDO:0013696 biolink:NamedThing chromosome 2P16.3 deletion syndrome mondoexuq1wtf schizophrenia 17|chromosome 2P16.3 deletion syndrome UMLS:C3808494|OMIM:614332 owl:Class MONDO:0017575 biolink:NamedThing mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. mondoexuq1wtf mitochondrial Neurogastrointestingal encephalopathy|POLIP|mitochondrial neurogastrointestinal encephalopathy syndrome|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|OGIMD|thymidine phosphorylase deficiency|Mitochondrial neurogastrointestinal encephalopathy|myoneurogastrointestinal encephalopathy syndrome|MNGIE|oculogastrointestinal muscular dystrophy|MNGIE syndrome MESH:C537477|GARD:0009920|NCIT:C119678|ICD10:G71.3|SCTID:718214007|Orphanet:298 https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome owl:Class MONDO:0016403 biolink:NamedThing mitochondrial disease with peripheral neuropathy mondoexuq1wtf Orphanet:225703|UMLS:CN201332 owl:Class MONDO:0006219 biolink:NamedThing gallbladder small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. mondoexuq1wtf gall bladder small cell carcinoma|small cell carcinoma of gallbladder|Oat cell carcinoma of the gallbladder|gallbladder small cell NEC|small cell carcinoma of gall bladder|gallbladder small cell carcinoma|small cell carcinoma of the gallbladder|Oat cell carcinoma of gallbladder|gallbladder small cell neuroendocrine carcinoma|gallbladder Oat cell carcinoma NCIT:C6763|EFO:1000266|UMLS:C1333759|DOID:7133 owl:Class MONDO:0000402 biolink:NamedThing small cell carcinoma A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. mondoexuq1wtf small cell carcinoma|small cell NEC|small cell carcinoma - intermediate cell|oat cell carcinoma|oat cell cancer|small cell carcinoma, intermediate cell|intermediate cell small cell carcinoma|small cell car. (extrapulmonary)|small cell neuroendocrine carcinoma|small cell carcinoma (extrapulmonary)|small cell cancer|small cell carcinoma, intermediate cell (morphologic abnormality) SCTID:11010461000119101|NCIT:C3915|MESH:D018288|DOID:0050685|UMLS:C0334239|ICDO:8042/3|ICDO:8041/3|EFO:0008524 owl:Class MONDO:0014340 biolink:NamedThing atrial fibrillation, familial, 15 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene. mondoexuq1wtf atrial fibrillation, familial, 15|ATFB15|atrial fibrillation, familial, type 15|familial atrial fibrillation caused by mutation in NUP155|NUP155 familial atrial fibrillation OMIM:615770|UMLS:C4014269 owl:Class MONDO:0014919 biolink:NamedThing sessile serrated polyposis cancer syndrome mondoexuq1wtf sessile serrated polyposis cancer syndrome; SSPCS|SSPCS|sessile serrated polyposis cancer syndrome UMLS:C4310714|OMIM:617108 owl:Class MONDO:0015524 biolink:NamedThing hyperplastic polyposis syndrome Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. mondoexuq1wtf serrated polyposis SCTID:763536006|NCIT:C165469|ICD10:D12.6|Orphanet:157798|UMLS:CN199665 owl:Class MONDO:0012911 biolink:NamedThing pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). mondoexuq1wtf pseudohypoparathyroidism, type IC|pseudohypoparathyroidism, type 1C|Php 1C|PHP1C MESH:C548076|ICD10:E20.1|OMIM:612462|GARD:0010681|Orphanet:79444|SCTID:717792007|UMLS:C2932716 https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c owl:Class MONDO:0017335 biolink:NamedThing microtriplication 11q24.1 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. mondoexuq1wtf tetrasomy 11q24.1 Orphanet:289522|ICD10:Q99.8 owl:Class MONDO:0016962 biolink:NamedThing partial duplication of the long arm of chromosome 11 mondoexuq1wtf partial duplication of chromosome 11q|11q trisomy|partial duplication of the long arm of chromosome type 11|11q duplication|partial trisomy 11q|Duplication 11q|trisomy 11q|partial trisomy of chromosome 11q|partial trisomy of the long arm of chromosome 11|chromosome 11q duplication GARD:0001923|Orphanet:262923 owl:Class MONDO:0100319 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in adults A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia). mondoexuq1wtf MIS-A http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0035375 biolink:NamedThing multisystem inflammatory syndrome in children and adults mondoexuq1wtf MIS-C/A ICD10:U10.9|Orphanet:598363 owl:Class MONDO:0011336 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 4 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. mondoexuq1wtf familial hemophagocytic lymphohistiocytosis type 4|FHL4|HLH4|Hlh4|HPLH4|STX11 genetic hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|Hplh4|hemophagocytic lymphohistiocytosis, familial, 4|hemophagocytic lymphohistiocytosis, familial, type 4 GARD:0009929|MESH:C537252|OMIM:603552|DOID:0110924 https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4 owl:Class MONDO:0015541 biolink:NamedThing genetic hemophagocytic lymphohistiocytosis Genetic hemophagocytic lymphohistiocytosis. mondoexuq1wtf genetic hemophagocytic syndrome|genetic hemophagocytic lymphohistiocytosis|primary hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis SCTID:398250003|OMIMPS:267700|MedDRA:10070904|ICD9:238.79|Orphanet:540 owl:Class MONDO:0008565 biolink:NamedThing familial thyroglossal duct cyst Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. mondoexuq1wtf thyroglossal duct cysts|hereditary thyroglossal duct cysts|thyroglossal duct cyst, familial|thyroglossal duct cysts familial|hereditary thyroglossal duct cyst GARD:0005204|Orphanet:93953|OMIM:188455|MESH:C536909|ICD10:Q89.2|UMLS:C3495590|SCTID:717331000 https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst owl:Class MONDO:0006460 biolink:NamedThing thyroglossal duct cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. mondoexuq1wtf EFO:1000585|MESH:D013955|SCTID:39462005|ICD9:759.2 owl:Class MONDO:0006069 biolink:NamedThing ACTH-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. mondoexuq1wtf malignant pituitary Corticotropinoma|malignant ACTH secreting tumor of the pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant corticotropin secreting pituitary gland neoplasm|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin producing pituitary gland tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant adrenocorticotropin producing neoplasm of pituitary|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin producing tumor of pituitary|malignant Corticotropinoma of pituitary|malignant ACTH secreting tumor of pituitary gland|malignant ACTH producing pituitary gland neoplasm|malignant pituitary gland Corticotropinoma|malignant adrenocorticotropin producing pituitary neoplasm|malignant ACTH secreting pituitary tumor|malignant adrenocorticotropin producing tumor of pituitary gland|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH producing tumor of the pituitary|malignant ACTH secreting neoplasm of pituitary|malignant ACTH producing pituitary neoplasm|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant ACTH producing pituitary tumor|malignant adrenocorticotropin secreting pituitary gland tumor|malignant adrenocorticotropin secreting pituitary neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant ACTH producing neoplasm of pituitary|malignant Corticotropinoma of pituitary gland|malignant Corticotropinoma of the pituitary|malignant ACTH secreting tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH producing pituitary gland tumor|malignant ACTH secreting neoplasm of pituitary gland|malignant ACTH secreting pituitary neoplasm|malignant ACTH producing tumor of pituitary|malignant ACTH producing neoplasm of the pituitary|malignant ACTH secreting pituitary gland tumor|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing tumor of the pituitary gland|malignant ACTH secreting tumor of pituitary|ACTH producing pituitary gland carcinoma|malignant ACTH producing neoplasm of pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|malignant adrenocorticotropin producing pituitary tumor|malignant adrenocorticotropin producing tumor of the pituitary UMLS:C1334556|DOID:6276|EFO:1000067|NCIT:C5964 owl:Class MONDO:0018975 biolink:NamedThing neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. mondoexuq1wtf Von Recklinghausen disease|neurofibromatosis type 1 microdeletion syndrome|neurofibromatosis, peripheral type|von Reklinghausen disease|neurofibromatosis 1|neurofibromatosis type 1|neurofibromatosis, type 1|type 1 neurofibromatosis|Recklinghausen's disease|peripheral neurofibromatosis|NF1|neurofibromatosis, type I|neurofibromatosis OMIM:162200|SCTID:92824003|MESH:D009456|MedDRA:10047712|GARD:0007866|UMLS:C0027831|ICD9:237.71|DOID:0111253|Orphanet:636|NCIT:C3273|ICD10:Q85.0|COHD:377252 owl:Class MONDO:0021061 biolink:NamedThing neurofibromatosis A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. mondoexuq1wtf central Neurofibromatosis|Neurofibromatosis 1|neurofibromatosis type 4|type IV neurofibromatosis of riccardi|neurofibromatosis type 2|Recklinghausen's neurofibromatosis|neurofibromatosis|peripheral Neurofibromatosis|neurofibromatosis type IV|acoustic neurofibromatosis|von Reklinghausen disease|neurofibromatosis syndrome NCIT:C6727|ICD10:Q85.02|ICD10:Q85.01|UMLS:C0162678|GARD:0010420|ICDO:9540/1|ICD9:237.7|DOID:8712|ICD9:237.70|COHD:376938|SCTID:19133005|MESH:D017253|ICD9:237.71|ICD9:237.72|ICD10:Q85.00 owl:Class MONDO:0004014 biolink:NamedThing ethmoid sinus ectopic meningioma An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. mondoexuq1wtf primary ectopic meningioma of the ethmoid sinus|primary ectopic meningioma of the ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of ethmoid sinus|ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of ethmoidal sinus NCIT:C5309|DOID:6854|UMLS:C1333475 owl:Class MONDO:0001764 biolink:NamedThing ethmoidal sinus neoplasm A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. mondoexuq1wtf neoplasm of ethmoid sinus|ethmoidal sinus neoplasm|tumor of the ethmoidal sinus|neoplasm of the ethmoidal sinus|ethmoid sinus neoplasm|tumor of ethmoid sinus|ethmoid sinus tumor|neoplasm of the ethmoid sinus|ethmoidal sinus tumor|tumor of the ethmoid sinus|tumor of ethmoidal sinus|neoplasm of ethmoidal sinus|ethmoid sinus neoplasm (disease) MONDO:0021215 NCIT:C4416|DOID:1364|SCTID:126677000|UMLS:C0345668 owl:Class MONDO:0012308 biolink:NamedThing Joubert syndrome with renal defect Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. mondoexuq1wtf Joubert syndrome with renal anomalies|Joubert syndrome type 4|JBTS4|Joubert syndrome 4|JS-R DOID:0110999|ICD10:Q04.3|Orphanet:220497|GARD:0010169|NCIT:C74997|MESH:C536296|SCTID:716999001|ICD10:Q61.5|OMIM:609583 https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies owl:Class MONDO:0000629 biolink:NamedThing cardiovascular organ benign neoplasm A benign neoplasm that involves the cardiovascular system. mondoexuq1wtf cardiovascular system benign neoplasm DOID:0060091 owl:Class MONDO:0010201 biolink:NamedThing Winchester syndrome mondoexuq1wtf Winchester-Grossman syndrome|multicentric osteolysis, nodulosis and arthropathy|nodulosis arthropathy osteolysis syndrome|WNCHRS|noa syndrome|Torg Winchester syndrome|Winchester syndrome|Al-Qeel Sewairi syndrome Editor note: check relationship to parent GARD:0007894|SCTID:254151006|OMIM:277950|UMLS:CN204453|ICD9:733.29 owl:Class MONDO:0007044 biolink:NamedThing acrodysostosis 1 with or without hormone resistance An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. mondoexuq1wtf acrodysostosis 1 with or without hormone resistance|acrodysostosis 1|ADOHR|ACRDYS1 NCIT:C136464|UMLS:C3276228|OMIM:101800 owl:Class MONDO:0017240 biolink:NamedThing acrodysostosis with multiple hormone resistance mondoexuq1wtf UMLS:CN202748|ICD10:Q75.4|Orphanet:280651 owl:Class MONDO:0014583 biolink:NamedThing congenital myasthenic syndrome 3A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. mondoexuq1wtf congenital myasthenic syndrome type 3A|congenital myasthenic syndrome 3A, slow-channel|CMS3A|myasthenic syndrome, congenital, 3A, slow-channel DOID:0110666|UMLS:C4225372|OMIM:616321 owl:Class MONDO:0018361 biolink:NamedThing neonatal scleroderma mondoexuq1wtf Orphanet:398127|ICD10:P83.8 owl:Class MONDO:0001892 biolink:NamedThing spinal cord lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. mondoexuq1wtf spinal cord lymphoma|lymphoma of spinal cord|primary spinal cord lymphoma|spinal cord cancer|lymphoma of the spinal cord NCIT:C5157|UMLS:C1336044|DOID:14150 owl:Class MONDO:0020458 biolink:NamedThing hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. mondoexuq1wtf adenosine deaminase, elevated, hemolytic anemia due to UMLS:CN207319|MESH:C566314|ICD10:D55.3|UMLS:C1863235|Orphanet:99138|OMIM:102730 owl:Class MONDO:0008809 biolink:NamedThing polyneuropathy-hand defect syndrome Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. mondoexuq1wtf digital extensor muscle aplasia-polyneuropathy|aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|polyneuropathy, hand defect|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy|Hamanishi Ueba Tsuji syndrome UMLS:C2930955|ICD10:Q87.8|OMIM:207740|Orphanet:2926|MESH:C535624|GARD:0002589 https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome owl:Class MONDO:0015364 biolink:NamedThing hereditary sensory and autonomic neuropathy An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. mondoexuq1wtf congenital insensitivity to pain|hereditary sensory autonomic neuropathy|hereditary sensory neuropathy|congenital pain insensitivity|hereditary sensory peripheral neuropathy|CIP|hereditary sensory and autonomic neuropathy|HSAN|indifference to pain, Congenital, autosomal recessive MESH:D009477|DOID:0050548|GARD:0012688|DC:0000323|NCIT:C125386|UMLS:C0027889|SCTID:11442006|Orphanet:140471|COHD:380398|OMIMPS:162400|ICD9:356.2|ICD10:G60.8 familial dysautonomia, type II https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 owl:Class MONDO:0016214 biolink:NamedThing pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. mondoexuq1wtf Orphanet:210136|UMLS:CN200975 owl:Class MONDO:0017027 biolink:NamedThing primary interstitial lung disease specific to adulthood mondoexuq1wtf primary ILD specific to adulthood UMLS:CN202339|Orphanet:264740 owl:Class MONDO:0010665 biolink:NamedThing Wilson-Turner syndrome Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. mondoexuq1wtf intellectual disability, X-linked, with gynecomastia and obesity|mental retardation, X-linked, syndromic 6|Wilson-TURNER X-linked mental retardation syndrome|Wilson Turner intellectual disability syndrome (formerly)|Wilson Turner mental retardation syndrome (formerly)|MRXS6|intellectual disability, X-linked, syndromic 6 (formerly)|mental retardation, X-linked, with gynecomastia and obesity|Wilson-TURNER X-linked intellectual disability syndrome|mental retardation, X-linked, with gynecomastia and obesity (formerly)|mental retardation, X-linked, syndromic 6 (formerly)|X-linked intellectual disability-gynecomastia-obesity syndrome|intellectual disability, X-linked, syndromic 6|WTS|X-linked intellectual disability - gynecomastia - obesity|intellectual disability, X-linked, with gynecomastia and obesity (formerly) Orphanet:3459|MESH:C536708|OMIM:309585|SCTID:719834005|DOID:0060814|GARD:0005579 https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome owl:Class MONDO:0014746 biolink:NamedThing SLC39A8-CDG mondoexuq1wtf congenital disorder of glycosylation type 2n|CDG2N|CDG IIn|carbohydrate deficient glycoprotein syndrome type IIn|congenital disorder of glycosylation, type IIn|CDG syndrome type IIn|CDG-IIn|congenital disorder of glycosylation type IIn|SLC39A8 deficiency UMLS:CN234734|DOID:0070266|UMLS:C4225234|OMIM:616721|Orphanet:468699 owl:Class MONDO:0003278 biolink:NamedThing inner ear cancer A malignant neoplasm involving the internal ear. mondoexuq1wtf cancer of internal ear|malignant neoplasm of internal ear|internal ear cancer|malignant internal ear neoplasm DOID:5102 owl:Class MONDO:0003277 biolink:NamedThing malignant ear neoplasm A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. mondoexuq1wtf ear cancer|cancer of ear|malignant Ear tumor|malignant ear neoplasm|malignant tumor of ear|malignant neoplasm of ear|malignant neoplasm of the Ear|malignant Ear neoplasm|malignant neoplasm of Ear|auricular cancer|malignant tumor of the Ear|malignant tumor of Ear SCTID:443648003|DOID:5101|MESH:D004428|NCIT:C9337|UMLS:C0751094 owl:Class MONDO:0000965 biolink:NamedThing liver lipoma A rare benign adipose tissue neoplasm of the liver. mondoexuq1wtf lipoma of the liver|hepatic lipoma|liver lipoma|lipoma of liver NCIT:C5750|UMLS:C1333970|DOID:10190 owl:Class MONDO:0000627 biolink:NamedThing benign endocrine neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. mondoexuq1wtf benign neoplasm of endocrine gland|benign tumor of the endocrine gland|benign endocrine gland tumor|benign tumor of endocrine gland|benign endocrine neoplasm|endocrine gland benign neoplasm|benign endocrine gland neoplasm|benign neoplasm of the endocrine gland|endocrine organ benign neoplasm|benign endocrine tumor SCTID:92085000|ICD9:227.8|ICD9:227.9|COHD:136937|NCIT:C4621|DOID:0060089|UMLS:C0347524 owl:Class MONDO:0003655 biolink:NamedThing cerebral lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. mondoexuq1wtf primary lymphoma, brain|primary cerebral lymphoma|brain primary lymphoma|cerebral lymphoma|primary lymphoma of the cerebrum|primary lymphoma of cerebrum NCIT:C7611|UMLS:C0240803|SCTID:276836002|DOID:5815 owl:Class MONDO:0002731 biolink:NamedThing cerebral hemisphere cancer A cancer that involves the cerebral hemisphere. mondoexuq1wtf malignant cerebral hemisphere neoplasm|malignant tumor of the cerebral hemispheres|malignant neoplasm of the cerebral hemispheres|malignant neoplasm of telencephalon|malignant neoplasm of cerebrum|malignant tumor of cerebral hemispheres|malignant telencephalon neoplasm|tumor of cerebrum|cerebral cancer|malignant cerebral neoplasm|malignant neoplasm of the cerebrum|malignant tumor of the cerebrum|malignant neoplasm of cerebral hemisphere|telencephalon cancer|cancer of cerebral hemisphere|malignant cerebral hemispheric tumor|malignant tumor of cerebrum|malignant neoplasm of cerebral hemispheres|malignant cerebral tumor|malignant cerebral hemispheric neoplasm|cerebrum cancer|cancer of telencephalon NCIT:C4577|ICD9:191.8|COHD:4091490|SCTID:429033009|DOID:368 owl:Class MONDO:0005876 biolink:NamedThing Nidovirales infectious disease Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections. mondoexuq1wtf Nidovirales disease or disorder|Nidovirales caused disease or disorder MESH:D030341|UMLS:C0969753|EFO:0007396 owl:Class MONDO:0007052 biolink:NamedThing growth hormone secreting pituitary adenoma 1 mondoexuq1wtf pituitary adenoma, growth hormone-secreting, 1|acromegaly due to pituitary adenoma 1|pituitary adenoma, familial isolated|familial isolated pituitary adenoma syndrome|Somatotrophinoma, familial|pituitary adenoma, growth hormone-secreting, type 1|pituitary adenoma 1, multiple types|PITA1|PAGH1|somatotropinoma, familial isolated|pituitary adenoma predisposition|isolated familial somatotropinoma Editor note: consider splitting OMIM GARD:0010959|OMIM:102200 owl:Class MONDO:0006238 biolink:NamedThing growth hormone-producing pituitary gland adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. mondoexuq1wtf growth hormone-producing adenoma|growth hormone producing pituitary adenoma|growth hormone secreting pituitary adenoma|growth hormone producing adenoma of pituitary|somatotroph adenoma|growth hormone secreting adenoma of the pituitary|growth hormone secreting adenoma of pituitary|growth hormone-producing pituitary gland adenoma|growth hormone secreting adenoma of pituitary gland|growth hormone secreting adenoma of the pituitary gland|growth hormone producing adenoma of the pituitary|GH cell adenoma|somatotropic adenoma|somatotrope adenoma|growth hormone producing pituitary gland adenoma|Somatotrophinoma|growth hormone secreting pituitary gland adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone producing adenoma of pituitary gland MONDO:0005332 EFO:0004125|NCIT:C7461|ICD10:D35.2|DOID:6255|SCTID:254957009|ICD10:E22.0|Orphanet:96256|EFO:1000287 owl:Class MONDO:0045031 biolink:NamedThing infectious diarrheal disease mondoexuq1wtf infectious diarrheal disease|infective diarrhea|infectious diarrhea SCTID:19213003 owl:Class MONDO:0001673 biolink:NamedThing diarrheal disease The condition of having at least three loose or liquid bowel movements each day. mondoexuq1wtf loose stools|diarrheal disorder|diarrheal disease|frequent stools|diarrhea of presumed infectious origin|diarrhea|diarrhoea MESH:D003967|ICD9:009.2|NCIT:C2987|SCTID:128333008|COHD:196523|DOID:13250|HP:0002014 owl:Class MONDO:0000473 biolink:NamedThing arterial disorder An impairment of the structure or function of the blood vessels which carry blood away from the heart. mondoexuq1wtf disease of artery|disease or disorder of artery|artery disease|arterial disorder|arteriopathy|artery disease or disorder|arterial disease|disorder of artery UMLS:C0852949|ICD9:447.9|DOID:0050828|NCIT:C35317|SCTID:359557001|ICD9:447.8 owl:Class MONDO:0009964 biolink:NamedThing short-rib thoracic dysplasia 9 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. mondoexuq1wtf Mainzer-Saldino syndrome|Mainzer Saldino syndrome|short-rib thoracic dysplasia 9 with or without polydactyly|Conorenal syndrome|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|SRTD9|Saldino-Mainzer syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia ICD10:Q87.5|OMIM:266920|GARD:0008600|ICD9:759.89|SCTID:254092004|Orphanet:140969|DOID:0110097 owl:Class MONDO:0016296 biolink:NamedThing holoprosencephaly Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. mondoexuq1wtf holoprosencephaly sequence|HPE UMLS:C0079541|ICD10:Q04.2|OMIMPS:236100|MESH:D016142|NCIT:C74988|SCTID:30915001|GARD:0006665|Orphanet:2162|DOID:4621|MedDRA:10056304 https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly owl:Class MONDO:0004914 biolink:NamedThing median arcuate ligament syndrome A syndromic disease that involves the median arcuate ligament. mondoexuq1wtf Harjola-Marable syndrome|median arcuate ligament syndromic disease|syndromic disease of median arcuate ligament|celiac artery compression syndrome|celiac access syndrome|Marable's syndrome ICD9:447.4|ICD10:I77.4|DOID:9892|COHD:194393|GARD:0012308|SCTID:9250002 owl:Class MONDO:0009539 biolink:NamedThing lymphoblastic leukemia, acute, with lymphomatous features mondoexuq1wtf lall|lymphomatous All|lymphoblastic leukemia, acute, with lymphomatous features OMIM:247640|MESH:C565429|UMLS:C1855472 owl:Class MONDO:0004967 biolink:NamedThing acute lymphoblastic leukemia Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. mondoexuq1wtf leukemia, lymphoblastic, malignant|ALL|acute lymphocytic leukaemia|lymphoblastic leukemia|acute lymphoblastic leukemia|acute lymphoblastic leukemia (disease)|ALL - acute lymphocytic leukemia|precursor cell lymphoblastic leukemia|lymphoblastic leukemia, acute|acute lymphocytic leukemias|acute lymphogenous leukemia|acute lymphoblastic leukemia (ALL)|precursor Lymphoblasic leukemia|acute lymphocytic leukemia|acute lymphoid leukemia|acute lymphoblastic leukemia/lymphoma|precursor lymphoblastic leukemia acute lymphoblastic leukemia (disease) ICD10:C91.9|ICD9:204.9|ICD10:C91|ICD10:C91.90|SCTID:91857003|ICD10:C91.00|COHD:134305|ICD10:C91.0|DOID:9952|EFO:0000220|DOID:1037|ICD9:204|NCIT:C3167|HP:0006721|GARD:0000522|ICDO:9835/3|ICD9:204.00|Orphanet:513|ICD9:204.0 owl:Class MONDO:0013276 biolink:NamedThing Reynolds syndrome Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). mondoexuq1wtf primary biliary cirrhosis and systemic scleroderma|Reynolds syndrome|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia ICD10:L94.0|OMIM:613471|ICD10:K74.3|GARD:0004697|Orphanet:779|SCTID:715401008|UMLS:C0748397 https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome owl:Class MONDO:0020130 biolink:NamedThing malformation of the cerebellar vermis mondoexuq1wtf Orphanet:98514 owl:Class MONDO:0007906 biolink:NamedThing familial partial lipodystrophy, Dunnigan type Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. mondoexuq1wtf lipodystrophy, reverse partial|Dunnigan syndrome|FPLD2|familial partial lipodystrophy Dunnigan type|familial partial lipodystrophy type 2|lipodystrophy, familial partial, type 2|familial lipodystrophy of limbs and lower trunk|lipodystrophy, familial partial, Dunnigan type|FPL2|reverse partial lipodystrophy|lipodystrophy, familial, of limbs and Lower trunk GARD:3126|ICD10:E88.1|Orphanet:2348|OMIM:151660|GARD:0003126|DOID:0070202|SCTID:715439000 owl:Class MONDO:0015333 biolink:NamedThing progeroid syndrome A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. mondoexuq1wtf Orphanet:139033|UMLS:CN199363|DC:0000583 owl:Class MONDO:0016740 biolink:NamedThing choriocarcinoma of the central nervous system A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO) mondoexuq1wtf choriocarcinoma of CNS|central nervous system choriocarcinoma|choriocarcinoma of the CNS|central nervous system choriocarcinoma (disease) NCIT:C7012|Orphanet:252015|UMLS:CN201988|UMLS:C1332876 owl:Class MONDO:0005207 biolink:NamedThing choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. mondoexuq1wtf chorioblastoma|chorionic carcinoma|chorion carcinoma|choriocarcinoma, malignant|choriocarcinoma (disease)|chorioepithelioma|choriocarcinoma choriocarcinoma (disease) Editor note: TODO check classification w.r.t carcinoma EFO:0002893|SCTID:188188009|NCIT:C2948|ICD10:C58|ONCOTREE:BCCA|ICDO:9100/3|UMLS:C0008497|DOID:3594|GARD:0006059|MESH:D002822|HP:0100768 owl:Class MONDO:0011142 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. mondoexuq1wtf musculocontractural Ehlers-Danlos syndrome|EDS, arthrogryposic type|Ehlers-Danlos syndrome, type VIB, formerly|adducted thumbs Dundar type|Ehlers-Danlos syndrome, musculocontractural type, 1|Ehlers-Danlos syndrome, type Vib, formerly|Ehlers-Danlos syndrome, musculocontractural type 1|CHST14-related EDS|adducted thumbs-arthrogryposis syndrome, Dundar type|EDSMC1|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb clubfoot syndrome|ATCS|EDSMC|CHST14-related Ehlers-Danlos syndrome|D4ST1-deficient EDS|Ehlers-Danlos syndrome, Kosho type|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|EDSmc|MCEDS|Ehlers-Danlos syndrome, arthrogryposic type|Ehlers-Danlos syndrome, type Vib|EDS6B, formerly|EDS, Kosho type|musculocontractural EDS|Dundar syndrome|adducted thumb-club foot syndrome|autosomal recessive adducted thumb-club foot syndrome|adducted thumb-clubfoot syndrome|EDS, musculocontractural type|D4ST1-deficient Ehlers-Danlos syndrome GARD:0000545|Orphanet:2953|GARD:0008486|ICD10:Q79.6|MESH:C000600608|SCTID:720860004 https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type owl:Class MONDO:0018293 biolink:NamedThing congenital disorder of glycosylation with skin involvement mondoexuq1wtf CDG with skin involvement ICD10:E77.8|Orphanet:371200 owl:Class MONDO:0025484 biolink:NamedThing simian acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus. mondoexuq1wtf SAIDS|Simian acquired immuno deficiency syndrome|Simian acquired immuno-deficiency syndrome|Simian immunodeficiency virus caused monkey disease|AIDSs, Simian|AIDS, Simian|Simian AIDS|Simian AIDSs|Simian acquired immune deficiency syndrome|Simian immunodeficiency virus monkey disease UMLS:C0080151|MESH:D016097 owl:Class MONDO:0025102 biolink:NamedThing monkey disease Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases). mondoexuq1wtf diseases, monkey|monkey disease|disease, monkey MESH:D008992 owl:Class MONDO:0000286 biolink:NamedThing Epstein-Barr virus hepatitis A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. mondoexuq1wtf DOID:0050204|SCTID:302919001|UMLS:C0554114 owl:Class MONDO:0023212 biolink:NamedThing Garret-Tripp syndrome mondoexuq1wtf polydactyly alopecia seborrheic dermatitis|Garret Tripp syndrome|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip UMLS:C2930965|MESH:C535646|GARD:0002435 https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome owl:Class MONDO:0044874 biolink:NamedThing refractory cytopenia of childhood The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. mondoexuq1wtf refractory cytopenia of childhood|RCC NCIT:C82596|ONCOTREE:RCYC owl:Class MONDO:0044873 biolink:NamedThing childhood myelodysplastic syndrome An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. mondoexuq1wtf myelodysplastic syndrome|childhood myelodysplastic syndrome|childhood MDS NCIT:C68744 owl:Class MONDO:0008546 biolink:NamedThing thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. mondoexuq1wtf thanatophoric dwarfism 1|PLSD San Diego type|Platyspondylic lethal skeletal dysplasia, San Diego type|thanatophoric dwarfism type 1|type 1 thanatophoric dysplasia|thanatophoric dwarfism|thanatophoric dysplasia, type I|TD1|thanatophoric dysplasia|thanatophoric dysplasia, type 1|lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dysplasia type I Orphanet:1860|NCIT:C98583|GARD:0009295|UMLS:C1868678|OMIM:187600|UMLS:C1300256|ICD10:Q77.1|GARD:0004889 owl:Class MONDO:0013325 biolink:NamedThing COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. mondoexuq1wtf CDG III|congenital disorder of glycosylation type 2i|CDG-III|congenital disorder of glycosylation type III|congenital disorder of glycosylation, type III|CDG syndrome type III|CDG2I|COG5-CDG (CDG-III)|carbohydrate deficient glycoprotein syndrome type III|CDG syndrome type 3 Orphanet:263487|OMIM:613612|DOID:0070261|GARD:0001173|ICD10:E77.8|GARD:0012348|SCTID:721100009|UMLS:C3150876 https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 owl:Class MONDO:0027029 biolink:NamedThing HHV-6 encephalitis HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. mondoexuq1wtf Variant A or HHV-6A|Human Herpesvirus 6 encephalitis|Variant B or HHV-6B GARD:0009667 owl:Class MONDO:0006009 biolink:NamedThing viral encephalitis Encephalitis resulting from viral infection. mondoexuq1wtf Viruses caused encephalitis|Viruses encephalitis|viral encephalitis Editor note: we place the Orphanet class here as it is implicitly viral NCIT:C35302|SCTID:34476008|MedDRA:10058805|COHD:372547|DOID:646|EFO:0007538|Orphanet:98252|UMLS:C0243010 owl:Class MONDO:0017623 biolink:NamedThing PTEN hamartoma tumor syndrome A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. mondoexuq1wtf PHTS SCTID:722859001|UMLS:C1959582|DOID:0080191|GARD:0012800|Orphanet:306498 https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome owl:Class MONDO:0019226 biolink:NamedThing glucose transport disorder An acquired metabolic disease that is has its basis in the disruption of glucose transport. mondoexuq1wtf rare inborn error of glucose transport|inborn error of glucose transport Orphanet:79178|ICD10:E74.8|UMLS:CN227593 owl:Class MONDO:0017706 biolink:NamedThing disorder of carbohydrate absorption and transport mondoexuq1wtf UMLS:CN227180|Orphanet:309001 owl:Class MONDO:0005978 biolink:NamedThing theileriasis Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. mondoexuq1wtf infection by Theileria|theileriosis ICD9:136.8|SCTID:68771000|UMLS:C0039753|MESH:D013801|EFO:0007506|DOID:3733 owl:Class MONDO:0002428 biolink:NamedThing protozoa infectious disease An infection that is caused by protozoans. mondoexuq1wtf protozoal infection|Mastigophora infectious disease|parasitic protozoa infectious disease|sarcomastigophora infectious disease ICD10:B50-B64|ICD10:B64|NCIT:C34953|DOID:2789|MESH:D011528 owl:Class MONDO:0007968 biolink:NamedThing melanoma tumor antigen Gp90 mondoexuq1wtf Class 1 unique tumor antigen of melanoma|melanoma tumor antigen Gp90 OMIM:155770 owl:Class MONDO:0014747 biolink:NamedThing familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome mondoexuq1wtf RDICC|retinal dystrophy and iris coloboma with or without congenital cataract UMLS:C4225233|OMIM:616722|Orphanet:488197 owl:Class MONDO:0002311 biolink:NamedThing retinal vascular disease Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. mondoexuq1wtf retina circulation disorder|retinal vascular disorder COHD:434337|ICD9:362.13|DOID:2462|NCIT:C35170|UMLS:C0154833|SCTID:57534004 owl:Class MONDO:0043218 biolink:NamedThing neurovascular disease A disorder of the nervous system related to a vascular etiology. mondoexuq1wtf nervous system disorder of vasculature|vasculature nervous system disorder|neurovascular disorder|disease of nervous system vasculature NCIT:C117007|UMLS:C3898144 owl:Class MONDO:0009259 biolink:NamedThing gamma-glutamylcysteine synthetase deficiency Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. mondoexuq1wtf gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|glutamate-cysteine ligase deficiency|rare inborn error of glutamate-cysteine ligase activity|inborn error of glutamate-cysteine ligase activity|inborn glutamate-cysteine ligase activity disorder OMIM:230450|DOID:0111681|SCTID:36799008|MESH:C565557|ICD9:270.8|ICD10:D55.1|Orphanet:33574 owl:Class MONDO:0010490 biolink:NamedThing SSR4-CDG (Xq28). mondoexuq1wtf carbohydrate deficient glycoprotein syndrome type Iy|CDG 1Y|CDG1Y|congenital disorder of glycosylation type 1y|congenital disorder of glycosylation, type Iy|CDG syndrome type Iy|CDG Iy|CDGIy|CDG-Iy|congenital disorder of glycosylation type Iy DOID:0070257|SCTID:733115009|UMLS:C4012395|OMIM:300934|Orphanet:370927|ICD10:E77.8|GARD:0012405 owl:Class MONDO:0017740 biolink:NamedThing disorder of protein N-glycosylation A disease that has its basis in the disruption of protein N-linked glycosylation. mondoexuq1wtf disorder of protein N-linked glycosylation|protein N-linked glycosylation disease UMLS:CN227187|ICD10:E77.8|Orphanet:309347 owl:Class MONDO:0015692 biolink:NamedThing refractory anemia with excess blasts in transformation Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. mondoexuq1wtf RAEB-t ICD10:D46.3|MedDRA:10038271|ICDO:9984/3|ICD9:238.73|UMLS:C0280028|NCIT:C27080|SCTID:110000005|UMLS:CN200189|Orphanet:168960 owl:Class MONDO:0030966 biolink:NamedThing neurofacioskeletal syndrome with or without renal agenesis mondoexuq1wtf Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis|NFSRA OMIM:619194 owl:Class MONDO:0010293 biolink:NamedThing ectodermal dysplasia and immune deficiency mondoexuq1wtf hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|Xhm-Ed|anhidrotic ectodermal dysplasia with immune deficiency|ectodermal dysplasia, anhidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immune deficiency|EDA-ID|hypohidrotic ectodermal dysplasia with immunodeficiency|ectodermal dysplasia, hypohidrotic, with immune deficiency|anhidrotic ectodermal dysplasia with immunodeficiency|HED-ID GARD:0009936|NCIT:C118844|ICD10:D82.8|MESH:C536181|SCTID:703525006|Orphanet:98813|UMLS:C1846006|OMIMPS:300291 owl:Class MONDO:0018035 biolink:NamedThing syndrome with combined immunodeficiency mondoexuq1wtf UMLS:CN204279|Orphanet:331217 owl:Class MONDO:0044749 biolink:NamedThing X-linked congenital stationary night blindness X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. mondoexuq1wtf XLCSNB|X-linked CSNB|congenital stationary night blindness, X-linked UMLS:CN043584|GARD:0003995 owl:Class MONDO:0012204 biolink:NamedThing familial pseudohyperkalemia An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. mondoexuq1wtf PSHK2|pseudohyperkalemia, familial, 2, due to red cell leak|pseudohyperkalemia Lille|pseudohyperkalemia East London|pseudohyperkalemia Chiswick|pseudohyperkalemia Falkirk|cryohydrocytosis, mild MESH:C563785|ICD10:D58.8|OMIM:609153|UMLS:C1836705|SCTID:717254007|UMLS:C4273970|Orphanet:90044 owl:Class MONDO:0020102 biolink:NamedThing hereditary stomatocytosis mondoexuq1wtf hereditary stomatocytic disease SCTID:14087004|ICD10:D58.8|Orphanet:98365|UMLS:C1262483|ICD9:282.8 owl:Class MONDO:0007718 biolink:NamedThing hepatic adenomas, familial mondoexuq1wtf liver cell adenomas, familial|hepatic adenomas, familial MESH:C564190|OMIM:142330|DOID:0111366|UMLS:C1840646 owl:Class MONDO:0000517 biolink:NamedThing brain stem medulloblastoma A medulloblastoma that involves the brainstem. mondoexuq1wtf brainstem medulloblastoma|medulloblastoma of brainstem DOID:0050899 owl:Class MONDO:0021228 biolink:NamedThing brainstem neoplasm A neoplasm (disease) that involves the brainstem. mondoexuq1wtf brainstem neoplasm (disease)|brainstem tumor|tumor of brain stem|brain stem tumor|tumor of brainstem|neoplasm of the brainstem|neoplasm of brainstem|neoplasm of brain stem|Brain stem neoplasm|neoplasm of the brain stem|tumor of the brain stem|tumor of the brainstem Orphanet:36414|NCIT:C4869 owl:Class MONDO:0016851 biolink:NamedThing maternal uniparental disomy of chromosome X mondoexuq1wtf UPD(X)mat|maternal uniparental disomy of chromosome type X ICD10:Q99.8|Orphanet:261519 owl:Class MONDO:0021147 biolink:NamedThing disorder of development or morphogenesis Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. mondoexuq1wtf owl:Class MONDO:0006793 biolink:NamedThing hyperpituitarism Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. mondoexuq1wtf COHD:26378|MESH:D006964|MedDRA:10020716|DOID:2444|ICD9:253.1|SCTID:10649000|EFO:1000973|UMLS:C0020506 owl:Class MONDO:0024468 biolink:NamedThing anterior pituitary gland disease A disease that involves the adenohypophysis. mondoexuq1wtf disease or disorder of adenohypophysis|disorder of adenohypophysis|disorder of anterior pituitary|adenohypophysis disease|disorder of anterior pituitary gland|disease of adenohypophysis|adenohypophysis disease or disorder ICD9:253.4|ICD9:253.9|SCTID:51742006 owl:Class MONDO:0013530 biolink:NamedThing atrial fibrillation, familial, 10 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene. mondoexuq1wtf ATFB10|atrial fibrillation, familial, 10|familial atrial fibrillation caused by mutation in SCN5A|SCN5A familial atrial fibrillation|atrial fibrillation, familial, type 10 UMLS:C3151464|OMIM:614022 owl:Class MONDO:0008706 biolink:NamedThing Ackerman syndrome Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. mondoexuq1wtf juvenile glaucoma with unusual upper lip and dental roots|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|pyramidal molar-glaucoma-upper abnormal lip syndrome|Ackerman fused molar rooth syndrome|Ackerman syndrome|glaucoma, juvenile, with unusual upper lip and dental roots|pyramidal molars, glaucoma, abnormal upper lip SCTID:722280000|OMIM:200970|Orphanet:2561|GARD:0000469|ICD10:K00.2|MESH:C538170|UMLS:C1860167 https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome owl:Class MONDO:0015762 biolink:NamedThing progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. mondoexuq1wtf PFIC|cholestasis, progressive familial intrahepatic Orphanet:172|NCIT:C84453|ICD10:K76.8|UMLS:C0268312|DOID:0070221|OMIMPS:211600 owl:Class MONDO:0017755 biolink:NamedThing inborn disorder of bilirubin metabolism An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. mondoexuq1wtf bilirubin metabolism disorder|disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism|inborn disorder of bilirubin metabolism and excretion|hereditary bilirubin metabolism disease Orphanet:309816|UMLS:CN227200 owl:Class MONDO:0018119 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement mondoexuq1wtf Orphanet:352309|UMLS:CN227266 owl:Class MONDO:0018117 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis mondoexuq1wtf Orphanet:352301|UMLS:CN227264 owl:Class MONDO:0032702 biolink:NamedThing Coffin-Siris syndrome 8 mondoexuq1wtf CSS8|COFFIN-SIRIS SYNDROME 8 Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466 OMIM:618362 owl:Class MONDO:0015452 biolink:NamedThing Coffin-Siris syndrome Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. mondoexuq1wtf short stature-onychodysplasia.|dwarfism-onychodysplasia|CSS|intellectual disability with absent fifth fingernail and terminal phalanx|fifth digit syndrome UMLS:C0265338|GARD:0006124|Orphanet:1465|SCTID:10007009|ICD10:Q87.1|ICD9:759.89|MESH:C536436|DOID:1925|OMIMPS:135900|NCIT:C35321 owl:Class MONDO:0003620 biolink:NamedThing peripheral nervous system disease A disease involving the peripheral nervous system. mondoexuq1wtf peripheral Neuropathies|nerve diseases, peripheral|disorder of peripheral nervous system|peripheral nerve disease|peripheral nervous system disease|disorder of the peripheral nervous system|peripheral nervous system disease or disorder|nerve disease, peripheral|neuropathy, peripheral|peripheral neuropathy|PNS diseases|PNS (peripheral nervous system) diseases|PNS disease|disease of peripheral nervous system|peripheral nervous system disorder|peripheral nervous system disorders|disease or disorder of peripheral nervous system|peripheral nerve diseases ICD9:356.9|SCTID:42658009|DOID:574|ICD10:G64|ICD9:350-359.99|NCIT:C27580|MESH:D010523 owl:Class MONDO:0015920 biolink:NamedThing syndromic neurometabolic disease with X-linked intellectual disability mondoexuq1wtf Orphanet:182076|UMLS:CN200518 owl:Class MONDO:0012524 biolink:NamedThing corticosterone methyloxidase type 2 deficiency mondoexuq1wtf corticosterone methyloxidase type II deficiency|18-oxidase deficiency|aldosterone deficiency 2|aldosterone deficiency due to deficiency of steroid 18-oxidase|Cmo 2 deficiency|hyperreninemic hypoaldosteronism, familial, 1|steroid 18-oxidase deficiency UMLS:C3463917|OMIM:610600 owl:Class MONDO:0015092 biolink:NamedThing cleft hard palate mondoexuq1wtf SCTID:448915004|Orphanet:101023|ICD10:Q35.1 owl:Class MONDO:0016064 biolink:NamedThing cleft palate Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. mondoexuq1wtf palatoschisis|cleft velum|uranostaphyloschisis MedDRA:10009269|ICD10:Q35|ICD10:Q35.1|ICD9:749.00|MESH:D002972|ICD10:Q35.3|ICD10:Q35.5|ICD10:Q35.9|SCTID:63567004|DOID:674|ICD9:749.0|ICD10:Q35.7|Orphanet:2014|COHD:135923|UMLS:C0008925|NCIT:C87069 owl:Class MONDO:0035133 biolink:NamedThing PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome mondoexuq1wtf Orphanet:589905 owl:Class MONDO:0005801 biolink:NamedThing human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. mondoexuq1wtf Human T-lymphotropic virus 1 disease or disorder|human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 infectious disease|Human T lymphotropic virus type 1|Human T-lymphotropic virus 1 caused disease or disorder|HTLV-1 MESH:D015490|UMLS:C0020097|GARD:0009645|EFO:0007316 owl:Class MONDO:0021605 biolink:NamedThing benign eyelid neoplasm A non-metastasizing neoplasm that arises from the upper or lower eyelid. mondoexuq1wtf benign eyelid tumor|benign neoplasm of the eyelid|benign neoplasm of eyelid|benign eyelid neoplasm|benign tumor of the eyelid|benign tumor of eyelid|eyelid benign neoplasm SCTID:231824001|NCIT:C4354|UMLS:C0339107 owl:Class MONDO:0003404 biolink:NamedThing adult yolk sac tumor A yolk sac tumor that occurs in an adult. mondoexuq1wtf yolk sac tumor of adults|adult endodermal sinus tumor|adult yolk Sac neoplasm|adult endodermal sinus neoplasm|adult yolk Sac tumor|yolk Sac tumor NCIT:C27241|UMLS:C1332221|DOID:5348 owl:Class MONDO:0005744 biolink:NamedThing yolk sac tumor A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. mondoexuq1wtf infantile embryonal carcinoma|endodermal sinus neoplasm|yolk Sac tumor|yolk Sac tumour site unspecified|hepatoid yolk sac tumour|endodermal sinus tumor|yolk Sac neoplasm|yolk Sac tumor site unspecified|yolk sac tumor|yolk SAC tumor, malignant ICD10:C56|SCTID:404081005|EFO:0007252|NCIT:C3011|ICDO:9071/3|Orphanet:876|DOID:1911|UMLS:C0014145|MedDRA:10048251|ONCOTREE:BYST|ICD10:C62.9 owl:Class MONDO:0001993 biolink:NamedThing seminal vesicle adenocarcinoma A carcinoma that arises from glandular epithelial cells of the seminal vesicle mondoexuq1wtf seminal vesicle adenocarcinoma DOID:14545|UMLS:C1519233|NCIT:C39906 owl:Class MONDO:0004970 biolink:NamedThing adenocarcinoma A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. mondoexuq1wtf adenocarcinoma|adenocarcinomas|ADNOS|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma, malignant UMLS:C0001418|MESH:D000230|EFO:0000228|DOID:299|SCTID:443961001|ONCOTREE:ADNOS|NCIT:C2852|ICDO:8140/3|CSP:2000-0386 owl:Class MONDO:0009648 biolink:NamedThing peripheral motor neuropathy-dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. mondoexuq1wtf motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome MESH:C536988|OMIM:252320|Orphanet:2400|UMLS:C1854961 owl:Class MONDO:0002567 biolink:NamedThing tracheal disease A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. mondoexuq1wtf disease or disorder of trachea|trachea disease|disorder of trachea|tracheal disorder|disease of trachea|trachea disease or disorder MESH:D014133|NCIT:C35079|SCTID:47125007|DOID:3225|UMLS:C0040580|ICD10:S12.8 owl:Class MONDO:0000270 biolink:NamedThing lower respiratory tract disease A disease involving the lower respiratory tract. mondoexuq1wtf lower respiratory tract disease or disorder|disease or disorder of lower respiratory tract|disease of lower respiratory tract|disorder of lower respiratory tract|lower respiratory tract disease ICD9:478.1|DOID:0050161|ICD9:478.19|UMLS:C1290325|SCTID:128272009 owl:Class MONDO:0005560 biolink:NamedThing brain disease A disease affecting the brain or part of the brain. mondoexuq1wtf brain disease or disorder|disorder of brain|brain disease|disease or disorder of brain|disease of brain|encephalopathy Editor note: NCIT has different classes for brain disease and encephalopathy ICD10:G93.9|UMLS:C0085584|ICD9:348.8|ICD10:G93.40|ICD9:348.9|EFO:0005774|SCTID:81308009|UMLS:C0006111|DOID:936|ICD9:348.30|MESH:D001927|ICD9:348.3|NCIT:C96413 owl:Class MONDO:0018098 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1E (DES) Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. mondoexuq1wtf LGMD1E|limb-girdle muscular dystrophy type 1E Terminology notes: See comments for LGMD1D GARD:0012529|UMLS:C3148763|ICD10:G71.0|Orphanet:34517 owl:Class MONDO:0016187 biolink:NamedThing qualitative or quantitative defects of desmin mondoexuq1wtf Orphanet:209041 owl:Class MONDO:0017584 biolink:NamedThing Sagliker syndrome A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face mondoexuq1wtf UMLS:CN203388|Orphanet:300493 owl:Class MONDO:0020369 biolink:NamedThing Chandler syndrome Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. mondoexuq1wtf Chandler's syndrome|posterior membrane corneal dystrophy|endothelial corneal dystrophy|dystrophy of corneal endothelium MedDRA:10057487|Orphanet:98979|ICD9:371.57|UMLS:C0544008|GARD:0006033|ICD10:H18.51|DOID:11554|ICD10:H21.2 owl:Class MONDO:0018988 biolink:NamedThing iridocorneal endothelial syndrome Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications mondoexuq1wtf ICE syndrome Orphanet:64734|MedDRA:10053678|UMLS:CN205427|ICD10:H21.1|UMLS:C1096100|NCIT:C84792|SCTID:129623003|GARD:0000060|MESH:D057129 owl:Class MONDO:0022094 biolink:NamedThing Cartwright Nelson Fryns syndrome mondoexuq1wtf Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails GARD:0001132|UMLS:C2931062|MESH:C535917 https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome owl:Class MONDO:0007006 biolink:NamedThing ulnar neuropathy Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) mondoexuq1wtf ulnar neuropathy|ulnar neuropathy (disorder) [ambiguous]|ulnar nerve mononeuropathy|mononeuropathy of ulnar nerve SCTID:359837005|DOID:4613|MESH:D020424|UMLS:C0154743|EFO:1001224 owl:Class MONDO:0044967 biolink:NamedThing limb disorder A disease or disorder that involves the limb. mondoexuq1wtf limb disease|disorder of limb|disease of limb|limb disease or disorder|disease or disorder of limb|disorder of extremity ICD9:V49.1|SCTID:128605003|UMLS:C1290877 owl:Class MONDO:0007650 biolink:NamedThing MALT lymphoma An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) mondoexuq1wtf Immunocytoma|mucosa-associated lymphatic tissue lymphoma|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|Extranodal marginal zone B-cell lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|gastric lymphoma, primary|familial primary gastric lymphoma|MALT lymphoma|MALT-lymphoma|lymphoma, mucosa-associated lymphoid type|mucosa-associated lymphoid tissue lymphoma|MALToma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|lymphoma of mucosa-associated lymphoid tissue SCTID:277622004|COHD:40482893|OMIM:137245|EFO:0000191|ICD10:C88.4|Orphanet:52417|UMLS:C1850900|NCIT:C3898|GARD:0006485|MedDRA:10060707|ICDO:9699/3|Wikipedia:MALT_lymphoma|DOID:0050909|ONCOTREE:EMALT|UMLS:C0242647|ICD9:202.80 owl:Class MONDO:0032741 biolink:NamedThing neurodevelopmental disorder with impaired speech and hyperkinetic movements mondoexuq1wtf NEDISHM|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS OMIM:618425 owl:Class MONDO:0032670 biolink:NamedThing Diamond-Blackfan anemia 20 mondoexuq1wtf DIAMOND-BLACKFAN ANEMIA 20|DBA20 OMIM:618313 owl:Class MONDO:0015253 biolink:NamedThing Diamond-Blackfan anemia A congenital aregenerative and often macrocytic anemia with erythroblastopenia. mondoexuq1wtf Blackfan - Diamond syndrome|congenital hypoplastic anemia, Blackfan-Diamond type|Aase-Smith II syndrome|erythrogenesis imperfecta|Aase syndrome|aregenerative anemia chronic congenital|Blackfan Diamond syndrome|congenital hypoplastic anemia|Blackfan-Diamond anemia|congenital PRCA|anemia Diamond Blackfan type|BDS|chronic constitutional pure red cell anaemia|congenital pure red cell aplasia|Red cell aplasia, pure hereditary|anemia congenital erythroid hypoplastic|DBA|inherited erythroblastopenia MESH:D029503|UMLS:C0265265|SCTID:88854002|ICD10:D61.01|UMLS:C1260899|NCIT:C61236|GARD:0006274|ICD10:D61.0|OMIMPS:105650|MedDRA:10062989|DOID:1339|Orphanet:124 owl:Class MONDO:0003314 biolink:NamedThing endometrioid stromal and related neoplasms of the vagina A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. mondoexuq1wtf endometrioid stromal and related neoplasms of the vagina|endometrioid stromal and related neoplasms of vagina|vaginal endometrial stromal tumor|endometrioid stromal and related tumors of the vagina|vagina endometrioid stromal and related neoplasms UMLS:C4289585|NCIT:C40269|DOID:5171 owl:Class MONDO:0021050 biolink:NamedThing vaginal neoplasm A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. mondoexuq1wtf vagina neoplasm (disease)|tumor of vagina|neoplasm of vagina|vagina neoplasm|vaginal neoplasm|vaginal tumor|neoplasm of the vagina|tumor of the vagina|vagina tumor Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva ONCOTREE:VULVA|EFO:1001447|NCIT:C3437|ICD9:239.5|SCTID:126921000 owl:Class MONDO:0014594 biolink:NamedThing autosomal dominant nonsyndromic deafness 67 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene. mondoexuq1wtf DFNA67|deafness, autosomal dominant type 67|OSBPL2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 67|autosomal dominant nonsyndromic deafness type 67|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|autosomal dominant deafness 67 UMLS:C4084712|ICD10:H90.3|OMIM:616340|DOID:0110588 owl:Class MONDO:0011268 biolink:NamedThing renal tubular acidosis, distal, 3, with or without sensorineural hearing loss mondoexuq1wtf renal tubular acidosis, autosomal recessive, with preserved hearing|classical distal RTA|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|type 1 renal tubular acidosis|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included|RTA, distal, autosomal recessive|renal tubular acidosis, autosomal recessive with preserved hearing|RTADR|renal tubular acidosis, distal, autosomal recessive|type 1 RTA|classical distal renal tubular acidosis OMIM:602722|GARD:0004669 owl:Class MONDO:0001909 biolink:NamedThing renal tubular acidosis A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. mondoexuq1wtf SCTID:1776003|UMLS:C0001126|ICD9:588.89|ICD10:N25.89|GARD:0007552|DOID:14219|MESH:D000141 https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis owl:Class MONDO:0001554 biolink:NamedThing phacogenic glaucoma Secondary glaucoma caused by either excessive size or spheric shape of the lens. mondoexuq1wtf phacomorphic glaucoma|lens swelling glaucoma|lens induced angle closure glaucoma DOID:12571|COHD:434030|ICD9:365.59|SCTID:392300000|UMLS:C0339590 owl:Class MONDO:0020228 biolink:NamedThing cataract associated with a metabolic disease mondoexuq1wtf Orphanet:98644|UMLS:CN207056 owl:Class MONDO:0008807 biolink:NamedThing apnea, central sleep mondoexuq1wtf sleep apnea, lethal central|apnea, central sleep See https://github.com/monarch-initiative/mondo/issues/46 OMIM:207720|UMLS:C0520680|OMIM:107640 owl:Class MONDO:0004731 biolink:NamedThing central sleep apnea syndrome A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. mondoexuq1wtf apnea, central sleep|sleep Apneas, central|Apneas, central sleep|central sleep Apneas|breathing, central sleep-disordered|central Apneas|central alveolar hypoventilation syndrome|central sleep apnea|Apneas, central|primary central sleep apnea|central apnea|apnea, central|central sleep apnea, secondary|secondary central sleep apnea|central sleep disordered breathing|sleep-disordered Breathings, central|sleep disordered breathing, central|central sleep-disordered breathing|alveolar hypoventilations, central|alveolar hypoventilation, central|ondine syndrome|Breathings, central sleep-disordered|central alveolar hypoventilation|hypoventilations, central alveolar|hypoventilation, central alveolar|central sleep apnea syndrome|sleep apnea, lethal central|sleep-disordered breathing, central|central sleep-disordered Breathings|central sleep apnea, primary|apnea, sleep, central ICD10:G47.31|SCTID:27405005|UMLS:C3887547|ICD9:327.21|MESH:D020182|NCIT:C27169|DOID:9220 owl:Class MONDO:0010443 biolink:NamedThing macular degeneration, X-linked atrophic mondoexuq1wtf macular degeneration, X-linked atrophic UMLS:C3151784|OMIM:300834 owl:Class MONDO:0015993 biolink:NamedThing cone-rod dystrophy Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. mondoexuq1wtf cone-rod retinal dystrophy|cone rod dystrophy GARD:0010790|ICD10:H35.5|Orphanet:1872|OMIMPS:120970|DOID:0050572 owl:Class MONDO:0012378 biolink:NamedThing fibromatosis, gingival, 3 mondoexuq1wtf GGF3|gingival fibromatosis, 3|fibromatosis, gingival, 3|GINGF3|hereditary gingival fibromatosis, 3|HGF3|fibromatosis gingival, hereditary, 3|fibromatosis, gingival, hereditary, 3 MESH:C537928|OMIM:609955|GARD:0009911 owl:Class MONDO:0016070 biolink:NamedThing hereditary gingival fibromatosis Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. mondoexuq1wtf hereditary gingival fibromatosis|hereditary gingival hyperplasia|autosomal dominant gingival fibromatosis|autosomal dominant gingival hyperplasia ICD10:K06.1|SCTID:109620006|UMLS:C0399440|OMIMPS:135300|Orphanet:2024|DOID:0060466 owl:Class MONDO:0016693 biolink:NamedThing subependymal giant cell astrocytoma A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO) mondoexuq1wtf subependymal giant cell astrocytic tumor|subependymal giant cell astrocytic neoplasm|SEGA|subependymal giant cell astrocytoma (morphologic abnormality) Orphanet:251618|DOID:5077|NCIT:C3696|GARD:0010632|ICD10:D43.2|UMLS:C0205768|SCTID:449799008|ICDO:9384/1 https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma owl:Class MONDO:0016685 biolink:NamedThing low-grade astrocytoma mondoexuq1wtf Orphanet:251592|MedDRA:10065869 owl:Class MONDO:0006611 biolink:NamedThing skin sarcoidosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. mondoexuq1wtf zone of skin sarcoidosis|cutaneous sarcoidosis|cutaneous sarcoid|sarcoidosis of zone of skin Wikipedia:Cutaneous_manifestations_of_sarcoidosis|COHD:4185547|UMLS:C0036203|DOID:13402|SCTID:55941000|ICD10:D86.3|NCIT:C34996|EFO:1000767 owl:Class MONDO:0019338 biolink:NamedThing sarcoidosis Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. mondoexuq1wtf miliary lupoid of boeck|benign lymphogranulomatosis of Schaumann|besnier-Boeck-Schaumann syndrome|Boeck sarcoid|Darier-Roussy sarcoid|lymphogranulomatosis|sarcoidosis|Boeck's sarcoidosis|sarcoid|lupus pernio of Besnier|Besnier-Boeck-Schaumann disease|Boeck's sarcoid Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease MESH:D012507|Orphanet:797|UMLS:C0036202|ICD10:D86.1|SCTID:31541009|DOID:11335|ICD10:D86.9|ICD9:135|COHD:438688|ICD10:D86|ICD10:D86.2|ICD10:D86.3|MedDRA:10039486|ICD10:D86.8|ICD10:D86.0|ICD10:D80-D89|NCIT:C34995 owl:Class MONDO:0007356 biolink:NamedThing Lynch syndrome 1 A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. mondoexuq1wtf Hereditary non-polyposis colon cancer type 1|Lynch syndrome type 1|Lynch 1 syndrome|Lynch syndrome 2|COCA1|familial non-polyposis colon cancer type 1|LYNCH syndrome I|hereditary nonpolyposis colorectal cancer type 1|colorectal cancer, hereditary nonpolyposis, type 1|colon cancer, familial nonpolyposis, type 1|HNPCC1 MESH:C537261|OMIM:120435|DOID:0070271|NCIT:C6725 owl:Class MONDO:0002770 biolink:NamedThing vaginal discharge Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. mondoexuq1wtf Discharge, vaginal NCIT:C50795|MESH:D019522|DOID:3767 owl:Class MONDO:0001433 biolink:NamedThing vaginal disease A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. mondoexuq1wtf disease of vagina|vaginal disorder|vagina disease|disease or disorder of vagina|vaginal disease|disorder of vagina|vagina disease or disorder SCTID:25658005|MESH:D014623|NCIT:C26910|UMLS:C0042251|DOID:121 owl:Class MONDO:0100249 biolink:NamedThing 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. mondoexuq1wtf XX sex reversal|46, XX gonadal sex reversal|46,XX testicular disorders of Sex development|XX, male syndrome|XX Male, Sry-positive|46,XX testicular DSD|XX male syndrome|46,XX testicular disorder of sex development|46,XX testicular differences of sex development|De la Chapelle syndrome http://orcid.org/0000-0001-5208-3432 UMLS:C2936419|NCIT:C127170|ICD10:Q99.1|Orphanet:393|GARD:0000399|MESH:D058531|DOID:0111760|UMLS:CN205000 owl:Class MONDO:0002415 biolink:NamedThing bone carcinoma A carcinoma that involves the bone element. mondoexuq1wtf carcinoma of bone element|bone element carcinoma DOID:2762 owl:Class MONDO:0009442 biolink:NamedThing ichthyosis congenita with biliary atresia mondoexuq1wtf ichthyosis congenita with biliary atresia|ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia OMIM:242400|GARD:0002948|MESH:C562886|SCTID:235916001 https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia owl:Class MONDO:0006131 biolink:NamedThing cerebellar liponeurocytoma A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO) mondoexuq1wtf lipomatous medulloblastoma (formerly)|cerebellar liponeurocytoma (WHO grade II)|cerebellar liponeurocytoma|CLNC|lipomatous medulloblastoma SCTID:716592003|UMLS:C1370507|Orphanet:251931|GARD:0010642|EFO:1000159|DOID:6458|ONCOTREE:CLNC|ICDO:0000/0|NCIT:C6905 https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma owl:Class MONDO:0016726 biolink:NamedThing neuronal tumor mondoexuq1wtf UMLS:CN201974|Orphanet:251924 owl:Class MONDO:0002534 biolink:NamedThing fallopian tube papilloma A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells. mondoexuq1wtf fallopian tube papilloma|fallopian tube serous papilloma UMLS:C1517123|NCIT:C40112|DOID:3173 owl:Class MONDO:0002363 biolink:NamedThing papilloma A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. mondoexuq1wtf papillomatosis NOS (morphologic abnormality)|papilloma, benign|papilloma|papilloma (except papilloma of bladder M-81201) (morphologic abnormality) ICDO:8050/0|UMLS:C0030354|MESH:D010212|SCTID:711329002|NCIT:C7440|DOID:2615 owl:Class MONDO:0007162 biolink:NamedThing asymmetric short stature syndrome mondoexuq1wtf asymmetric short stature syndrome MESH:C566248|UMLS:C1862458|OMIM:108450 owl:Class MONDO:0003359 biolink:NamedThing myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. mondoexuq1wtf myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma UMLS:C0205816|ICDO:8896/3|DOID:5268|NCIT:C3701 owl:Class MONDO:0003165 biolink:NamedThing cerebellar astrocytoma Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. mondoexuq1wtf cerebellum astrocytoma (excluding glioblastoma)|cerebellar astrocytoma|astrocytoma, cerebellar|astrocytoma of the cerebellum|cerebellum astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum|astrocytoma of cerebellum DOID:4848|NCIT:C9475|UMLS:C0740480 owl:Class MONDO:0002913 biolink:NamedThing cerebellar neoplasm A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 mondoexuq1wtf cerebellum neoplasm|neoplasm of the cerebellum|cerebellum cancer|tumor of the cerebellum|tumor of cerebellum|malignant tumor of cerebellum|cerebellum tumor|neoplasm of cerebellum|cerebellar tumor|cerebellar neoplasm|cerebellum neoplasm (disease) MESH:D002528|ICD10:C71.6|SCTID:126960003|ICD9:191.6|DOID:4205|NCIT:C2935|UMLS:C0007762 owl:Class MONDO:0019881 biolink:NamedThing distal trisomy 6q Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. mondoexuq1wtf distal trisomy type 6q|distal duplication 6q|trisomy 6qter|telomeric duplication 6q Orphanet:96098|SCTID:763275001|MESH:C537810|ICD10:Q92.3 owl:Class MONDO:0016957 biolink:NamedThing partial duplication of the long arm of chromosome 6 Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. mondoexuq1wtf chromosome 6q duplication|partial trisomy 6q|partial duplication of the long arm of chromosome type 6|partial trisomy of the long arm of chromosome 6|Duplication 6q|trisomy 6q|partial trisomy of chromosome 6q|6q trisomy|6q duplication|partial duplication of chromosome 6q GARD:0005353|Orphanet:262878|MESH:C537812 owl:Class MONDO:0007970 biolink:NamedThing melorheostosis Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. mondoexuq1wtf melorheostosis, isolated|Mel ICD9:756.89|MedDRA:10050284|Orphanet:2485|ICD10:M85.8|OMIM:155950|UMLS:C0025239|NCIT:C84887|MESH:D008557|GARD:0009474|DOID:4253|SCTID:44697002 https://rarediseases.info.nih.gov/diseases/9474/melorheostosis owl:Class MONDO:0017198 biolink:NamedThing osteopetrosis Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. mondoexuq1wtf marble bone|marble bones|osteosclerosis fragilis|Albers-Schonberg disease|osteopetrosis (disease)|osteopetrosis|Albers-Schoenberg disease|osteopetrosis and related disorders|marble bone disease|osteopetroses osteopetrosis (disease) OMIMPS:259700|GARD:0004155|SCTID:1926006|HP:0011002|Orphanet:2781|NCIT:C26840|ICD10:Q78.2|MedDRA:10031280|COHD:81403|DOID:13533|ICD9:756.52 owl:Class MONDO:0004546 biolink:NamedThing lumbar plexus neoplasm A neoplasm (disease) that involves the lumbar nerve plexus. mondoexuq1wtf neoplasm of the lumbar plexus|lumbar nerve plexus neoplasm|tumor of lumbar nerve plexus|tumor of lumbar plexus|neoplasm of lumbar plexus|lumbar nerve plexus neoplasm (disease)|lumbar plexus neoplasms|tumor of the lumbar plexus|lumbar nerve plexus tumor|neoplasm of lumbar nerve plexus|lumbar plexus tumor NCIT:C5824|DOID:8389|UMLS:C1334437 owl:Class MONDO:0001829 biolink:NamedThing lumbosacral plexus lesion A nerve plexus disease that involves the lumbosacral nerve plexus. mondoexuq1wtf nerve plexus disease of lumbosacral nerve plexus|lumbosacral nerve plexus nerve plexus disease|lumbosacral plexus lesions SCTID:4062006|DOID:13913|COHD:197852|UMLS:C0154735|ICD9:353.1 owl:Class MONDO:0009294 biolink:NamedThing glycogen storage disease VI Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. mondoexuq1wtf PYGL glycogen storage disease|glycogenosis type VI|glycogen storage disease type VI|liver glycogen phosphorylase deficiency|GSD type 6|GSD type VI|glycogen storage disease caused by mutation in PYGL|hepatic phosphorylase deficiency|glycogen storage disease type 6|hepatic glycogen phosphorylase deficiency|glycogenosis type 6|glycogen storage disease 6|glycogen storage disease VI|hers' disease|glycogenosis due to liver glycogen phosphorylase deficiency|hepatophosphorylase deficiency glycogenosis|GSD due to liver glycogen phosphorylase deficiency|glycogen storage disease due to liver glycogen phosphorylase deficiency|phosphorylase deficiency glycogen-storage disease of liver|hers disease|GSD 6|GSD6 UMLS:C0017925|GARD:0006529|MedDRA:10053240|NCIT:C126875|OMIM:232700|MESH:D006013|SCTID:29291001|ICD10:E74.09|ICD10:E74.0|DOID:2754|Orphanet:369 owl:Class MONDO:0021345 biolink:NamedThing carcinoma of pharynx A carcinoma that involves the pharynx. mondoexuq1wtf carcinoma of pharynx|carcinoma of the pharynx|pharynx carcinoma|pharyngeal throat cancer|cancer of the pharynx|pharyngeal carcinoma SCTID:449254004|NCIT:C9466 owl:Class MONDO:0017793 biolink:NamedThing marfanoid habitus-inguinal hernia-advanced bone age syndrome mondoexuq1wtf Orphanet:314041|UMLS:CN203743 owl:Class MONDO:0013646 biolink:NamedThing chromosome 8q21.11 deletion syndrome 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. mondoexuq1wtf 8q21.11 microdeletion syndrome|deletion 8q21.11|monosomy 8q21.11|chromosome 8q21.11 deletion syndrome|Del(8)(q21.11) UMLS:C3280231|ICD10:Q93.5|SCTID:718615003|Orphanet:284160|DOID:0060425|OMIM:614230|UMLS:C4305343 owl:Class MONDO:0011131 biolink:NamedThing tricho-oculo-dermo-vertebral syndrome mondoexuq1wtf arthrogryposis and ectodermal dysplasia|Trichooculodermovertebral syndrome|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|Alves-dos Santos-Castelo syndrome|Alves syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|Todv syndrome OMIM:601701|GARD:0001553|Orphanet:3354|MESH:C537441 owl:Class MONDO:0002051 biolink:NamedThing integumentary system disease A disease involving the integumental system. mondoexuq1wtf disorder of integument|integumentary disease|disease of integumental system|integumental system disease|disorder of integumental system|disease or disorder of integumental system|integumental system disease or disorder MONDO:0045027 SCTID:128598002|UMLS:C1290011|DOID:16 owl:Class MONDO:0015152 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy Autosomal recessive form of limb-girdle muscular dystrophy. mondoexuq1wtf limb-girdle muscular dystrophy, autosomal recessive|muscular dystrophy, limb-girdle, autosomal recessive DOID:0110274|OMIMPS:253600|Orphanet:102015|ICD10:G71.0|MESH:C538640|UMLS:C2931907 owl:Class MONDO:0007116 biolink:NamedThing hereditary neurocutaneous angioma Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. mondoexuq1wtf angioma hereditary neurocutaneous|hereditary neurocutaneous malformation|hemangiomatosis, disseminated|hereditary neurocutaneous angioma|angioma, hereditary neurocutaneous|spinal arterial Venous malformations with cutaneous hemangiomas GARD:0000676|OMIM:106070|Orphanet:1062|ICD10:D18.0 owl:Class MONDO:0032570 biolink:NamedThing Joubert syndrome 35 mondoexuq1wtf JOUBERT SYNDROME 35|JBTS35 OMIM:618161 owl:Class MONDO:0012767 biolink:NamedThing age related macular degeneration 11 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. mondoexuq1wtf macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|macular degeneration, age-related, 11|ARMD11|age-related macular degeneration caused by mutation in CST3|age related macular degeneration type 11 MESH:C567450|DOID:0110023|OMIM:611953|UMLS:C2677774 owl:Class MONDO:0001763 biolink:NamedThing ethmoid sinus cancer A malignant neoplasm involving the ethmoid sinus. mondoexuq1wtf malignant ethmoid sinus neoplasm|malignant ethmoidal sinus tumor|malignant neoplasm of ethmoid sinus|malignant ethmoidal sinus neoplasm|malignant neoplasm of ethmoidal sinus|malignant neoplasm of the ethmoid sinus|cancer of ethmoid sinus|malignant tumor of ethmoid sinus|malignant tumor of the ethmoidal sinus|malignant tumor of ethmoidal sinus|ethmoid sinus cancer|malignant ethmoid sinus tumor|malignant tumor of the ethmoid sinus|malignant neoplasm of the ethmoidal sinus ICD10:C31.1|UMLS:C0153477|DOID:1363|ICD9:160.3|SCTID:363426009|NCIT:C3541 owl:Class MONDO:0000380 biolink:NamedThing paranasal sinus carcinoma A malignant epithelial neoplasm arising in the paranasal sinus. mondoexuq1wtf epidermoid carcinoma of the paranasal sinus|paranasal sinus mucoepidermoid carcinoma|adenoid cystic carcinoma of paranasal sinus|malignant neoplasm of paranasal sinus|carcinoma of paranasal sinus|cancer of paranasal sinus|paranasal sinus cancer|paranasal sinus adenoid cystic carcinoma|carcinoma of the paranasal sinus|malignant paranasal sinus neoplasm|paranasal sinus squamous cell carcinoma|paranasal sinus carcinoma|paranasal sinus adenocarcinoma|carcinoma of the accessory sinus|squamous cell carcinoma of paranasal sinus|accessory sinus cancer|accessory sinus carcinoma|carcinoma of accessory sinus|mucoepidermoid carcinoma of accessory sinus|adenoid cystic carcinoma of accessory sinus DOID:0050619|NCIT:C6014|UMLS:C0854995 owl:Class MONDO:0004866 biolink:NamedThing eustachian tube disease A disease involving the pharyngotympanic tube. mondoexuq1wtf disease of eustachian tube|pharyngotympanic tube disease|disease or disorder of pharyngotympanic tube|disorder of pharyngotympanic tube|eustachian tube disorder|pharyngotympanic tube disease or disorder|disease of pharyngotympanic tube|auditory tube disorder|disorder of eustachian tube DOID:9739|SCTID:69494008|ICD9:381.9|ICD9:381.8|UMLS:C0271468|ICD9:381.89|ICD10:H68 owl:Class MONDO:0003276 biolink:NamedThing middle ear disease A disease involving the middle ear. mondoexuq1wtf disease or disorder of middle ear|middle ear disease or disorder|disease of middle ear|disorder of middle ear|middle ear disease|middle Ear disorder SCTID:68996008|DOID:5100|COHD:374364|UMLS:C0271428|NCIT:C27065 owl:Class MONDO:0032648 biolink:NamedThing mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations mondoexuq1wtf MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS|MCCCHCM OMIM:618273|DOID:0111403 owl:Class MONDO:0016558 biolink:NamedThing familial congenital mirror movements Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. mondoexuq1wtf CMM|congenital mirror movement disorder|congenital mirror movements|isolated congenital mirror movements|bimanual synkinesis|isolated congenital controlateral synkinesia|familial congenital mirror movements|familial congenital controlateral synkinesia|hereditary congenital controlateral synkinesia|hereditary congenital mirror movements MONDO:0000140 Orphanet:238722|DC:0000563|GARD:0012551|OMIMPS:157600|SCTID:229247004|DOID:0111153 owl:Class MONDO:0100075 biolink:NamedThing jaw fracture A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken. mondoexuq1wtf lower jaw fracture|upper jaw fracture 2019-02-06 06:57:26+00:00 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005315 biolink:NamedThing bone fracture Breaks in bones. mondoexuq1wtf fracture|fracture(s)|fracture of bone NCIT:C3046|MESH:D050723|COHD:75053|EFO:0003931|SCTID:125605004 owl:Class MONDO:0011085 biolink:NamedThing Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. mondoexuq1wtf Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|Charcot-Marie-Tooth neuropathy type 4D|HMSNL|Charcot-Marie-Tooth disease, type 4D|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|HMSN, Lom type|hereditary motor ABD sensory neuropathy Lom type|hereditary motor and sensory neuropathy, Lom type|CMT4D|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|HMSN4D|NDRG1 Charcot-Marie-Tooth disease type 4|HMSN Lom type|NMSL|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth neuropathy, type 4D|HMSN-Lom SCTID:715798007|OMIM:601455|ICD10:G60.0|GARD:0003973|DOID:0110186|UMLS:C1832334|Orphanet:99950|MESH:C535716 https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d owl:Class MONDO:0018995 biolink:NamedThing Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. mondoexuq1wtf AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth|CMT4 Orphanet:64749|UMLS:CN043578|GARD:0012440|SCTID:715795005|ICD10:G60.0|DOID:0050541 owl:Class MONDO:0010404 biolink:NamedThing X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. mondoexuq1wtf SCAX5|X-linked spinocerebellar ataxia type 5|spinocerebellar ataxia, X-linked 5 ICD10:G11.0|MESH:C567478|SCTID:766818009|OMIM:300703|Orphanet:314978|UMLS:C2678048 owl:Class MONDO:0016612 biolink:NamedThing X-linked cerebellar ataxia X-linked form of cerebellar ataxia. mondoexuq1wtf cerebellar ataxia, X-linked|hereditary ataxia, X-linked|X-linked hereditary ataxia MONDO:0000559 ICD10:G11.1|DOID:0050953|Orphanet:247765 owl:Class MONDO:0025271 biolink:NamedThing trypanosomiasis, bovine Infection in cattle caused by various species of trypanosomes. mondoexuq1wtf bovine Trypanosomiases|bovine trypanosomiasis|Trypanosomiases, bovine UMLS:C0041230|MESH:D014354 owl:Class MONDO:0017700 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form mondoexuq1wtf GBE deficiency, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type IV, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|GSD type 4, childhood neuromuscular form UMLS:C1856305|ICD10:E74.0|Orphanet:308698 owl:Class MONDO:0009292 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. mondoexuq1wtf GSD due to glycogen branching enzyme deficiency|amylopectinosis|deficiency of 1,4-alpha-glucan branching enzyme|glycogen storage disease IV|glycogen branching enzyme deficiency|Andersen's disease|GSD type 4|GSD 4|glycogenosis type IV|cirrhosis, familial, with deposition of abnormal glycogen|branching-transferase deficiency glycogenosis|GBE1 glycogen storage disease|glycogen storage disease, type IV|glycogenosis 4|GSD IV, neuromuscular form, fatal perinatal|GSD IV|Gbe1 deficiency|glycogenosis due to glycogen branching enzyme deficiency|glycogen storage disease type 4|Andersen disease|glycogen storage disease 4|GSD4|GSD IV, nonprogressive hepatic|glycogen storage disease caused by mutation in GBE1|GSD IV, neuromuscular form, congenital|glycogen storage disease type IV|glycogenosis type 4|GSD IV, neuromuscular form, adult, with isolated myopathy|GSD type IV|brancher deficiency|GSD IV, classic hepatic|brancher deficiency glycogenosis|GSD IV, neuromuscular form, childhood DOID:2750|UMLS:CN204783|GARD:0002520|UMLS:C0017923|ICD10:E74.09|NCIT:C84737|ICD10:E74.0|MedDRA:10053249|OMIM:232500|Orphanet:367|SCTID:124267007|ICD9:277.6 owl:Class MONDO:0023171 biolink:NamedThing foix chavany Marie syndrome Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. mondoexuq1wtf anterior opercular syndrome|bilateral anterior opercular syndrome|foix chavany Marie syndrome|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|facio-pharyngo-glosso-masticatory diplegia|opercular syndrome, anterior|congenital Foix-Chavany-Marie syndrome (subtype)|pseudobulbar paralysis, cortical type|congenital Foix-Chavany-Marie syndrome|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis GARD:0002351|Orphanet:2048|MESH:C537069|SCTID:720956003|UMLS:C2931412 https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome owl:Class MONDO:0015181 biolink:NamedThing congenital intestinal disease due to an enzymatic defect mondoexuq1wtf Orphanet:104006 owl:Class MONDO:0005020 biolink:NamedThing intestinal disease A non-neoplastic or neoplastic disorder that affects the small or large intestine. mondoexuq1wtf intestine disease or disorder|intestinal disease|diseases, intestinal|disease or disorder of intestine|intestinal disorder|disease, intestinal|intestine disease|disorder of intestine|disease of intestine ICD9:569.49|ICD9:570-579.99|SCTID:85919009|ICD9:569.9|ICD9:569.89|ICD9:520-579.99|ICD9:564.4|ICD9:560-569.99|ICD9:569|ICD9:564|ICD9:569.4|DOID:5295|ICD10:K63.9|NCIT:C26801|MESH:D007410|ICD9:575 owl:Class MONDO:0010466 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 2 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. mondoexuq1wtf epileptic encephalopathy, early infantile, 20|MCAHS2|DEE20|glycosylphosphatidylinositol biosynthesis defect 4|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|multiple congenital anomalies-hypotonia-seizures syndrome type 2|multiple congenital anomalies-hypotonia-seizures syndrome 2|developmental and epileptic encephalopathy 20|GPIBD4|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability|MCAHS type 2 OMIM:300868|DOID:0080139|ICD10:Q87.8|Orphanet:300496|GARD:0012777|UMLS:C3275508 owl:Class MONDO:0021571 biolink:NamedThing multiple sclerosis, susceptibility to 1 mondoexuq1wtf multiple sclerosis, susceptibility to|MS|multiple sclerosis, susceptibility to, 1|susceptibility to multiple sclerosis|MS1|disseminated sclerosis OMIM:126200|UMLS:CN031763 owl:Class MONDO:0007462 biolink:NamedThing multiple sclerosis, susceptibility to mondoexuq1wtf MS|disseminated sclerosis OMIMPS:126200 owl:Class MONDO:0010578 biolink:NamedThing deafness dystonia syndrome Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. mondoexuq1wtf deafness-dystonia-optic neuronopathy (DDON) syndrome|Mohr-Tranebjaerg syndrome|dystonia deafness syndrome|deafness dystonia optic neuronopathy syndrome|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic neuronopathy syndrome|deafness dystonia optic atrophy syndrome|dystonia-deafness syndrome|deafness-Dystonia-optic atrophy syndrome|DDP|DDON syndrome|MTS|deafness dystonia optic neuronopathy syndrome (DDON)|MOHR-Tranebjaerg syndrome|deafness - dystonia - optic neuronopathy syndrome SCTID:702423009|ICD9:759.89|OMIM:304700|Orphanet:52368|UMLS:C0796074|ICD10:G31.8|MESH:C535808|GARD:0008331|DOID:0050757 owl:Class MONDO:0004884 biolink:NamedThing eye degenerative disease A neurodegenerative disease that involves the eye. mondoexuq1wtf eyeball of camera-type eye neurodegenerative disease|degenerative disorder of eye|eye neurodegenerative disease|degenerative disorder of globe|neurodegenerative disease of eyeball of camera-type eye UMLS:C0154777|ICD9:360.2|ICD9:360.20|DOID:9799|ICD9:360.29|ICD9:360.4|ICD10:H44.5|SCTID:62585004|ICD9:360.40|ICD10:H44.30 owl:Class MONDO:0009242 biolink:NamedThing brittle cornea syndrome Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. mondoexuq1wtf Ehlers-Danlos syndrome type 6b|type VIB Ehlers-Danlos syndrome|BCS1|Ehlers-Danlos syndrome type 6B (formerly)|brittle cornea syndrome type 1|brittle cornea syndrome|EDS VIB (formerly)|brittle cornea syndrome 1|kyphoscoliosis type|brittle cornea syndrome 2 GARD:0001019|DOID:14775|Orphanet:90354|OMIMPS:229200|ICD10:Q79.6|SCTID:719096006 https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome owl:Class MONDO:0001017 biolink:NamedThing epididymal adenocarcinoma A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. mondoexuq1wtf adenocarcinoma of the epididymis|epididymis adenocarcinoma|epididymal adenocarcinoma NCIT:C39957|DOID:10368|UMLS:C1510784 owl:Class MONDO:0001016 biolink:NamedThing epididymis cancer A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. mondoexuq1wtf malignant tumor of epididymis|malignant epididymis neoplasm|epididymis cancer|malignant epididymal tumor|malignant neoplasm of epididymis|cancer of epididymis|malignant epididymal neoplasm|malignant tumor of the epididymis|malignant neoplasm of the epididymis ICD10:C63.0|UMLS:C0153602|SCTID:363452003|NCIT:C3558|DOID:10366|ICD9:187.5 owl:Class MONDO:0001567 biolink:NamedThing nephrocalcinosis Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. mondoexuq1wtf hypercalcemic nephropathy NCIT:C84918|MESH:D009397|GARD:0007177|ICD9:275.49|DOID:12679|UMLS:C0027709|SCTID:48638002 https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis owl:Class MONDO:0002123 biolink:NamedThing calcinosis Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. mondoexuq1wtf pathologic calcification|calcium deposit(s)|pathologically calcified structure|deposit(s), calcium|macrocalcification|calcification EFO:0003837|HP:0003761|NCIT:C3672|ICD9:275.49|MESH:D002114|DOID:182|SCTID:6595006 owl:Class MONDO:0002867 biolink:NamedThing pancreatic cystadenocarcinoma A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. mondoexuq1wtf cystadenocarcinoma - pancreas|pancreas cystadenocarcinoma|acinar cell cystadenocarcinoma|pancreatic cystadenocarcinoma|cystadenocarcinoma of the pancreas|cystadenocarcinoma of pancreas NCIT:C3874|SCTID:235966007|UMLS:C0238337|DOID:4073 owl:Class MONDO:0005596 biolink:NamedThing cystadenocarcinoma A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. mondoexuq1wtf cystadenocarcinoma|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma, malignant MESH:D003536|DOID:3111|EFO:0006387|NCIT:C2971|UMLS:C0010631|ICDO:8440/3 owl:Class MONDO:0003264 biolink:NamedThing basosquamous carcinoma A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. mondoexuq1wtf metatypical carcinoma (morphologic abnormality)|basosquamous carcinoma|Basisquamous cell carcinoma|basosquamous cell carcinoma|skin basosquamous cell carcinoma|skin mixed basal and squamous cell carcinoma|metatypical carcinoma|basosquamous tumor, malignant MONDO:0006413 ICDO:8094/3|UMLS:C0007118|NCIT:C2922|EFO:1000529|MESH:D002281|DOID:5063 owl:Class MONDO:0005341 biolink:NamedThing skin basal cell carcinoma The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. mondoexuq1wtf basal cell cancer|basal cell carcinoma|basal cell carcinoma of skin|BCC|basal cell skin carcinoma|basal cell epithelioma|basal cell tumor|epithelioma basal cell|basal cell carcinoma of the skin|skin basal cell cancer|skin basal cell carcinoma CSP:2000-2719|COHD:4112752|ICDO:8090/3|UMLS:C0751676|UMLS:C0007117|ONCOTREE:BCC|DOID:2513|KEGG:05217|UMLS:C0206710|SCTID:254701007|HP:0002671|EFO:0004193|NCIT:C2921 owl:Class MONDO:0003356 biolink:NamedThing epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. mondoexuq1wtf epithelioid leiomyosarcoma NCIT:C3700|ICDO:8891/3|UMLS:C0205815|DOID:5264 owl:Class MONDO:0013809 biolink:NamedThing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome mondoexuq1wtf cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS OMIM:614575|UMLS:C3281223 owl:Class MONDO:0019213 biolink:NamedThing cerebral organic aciduria A inherited organic acidemia that involves the brain. mondoexuq1wtf inherited organic acidemia of brain|brain inherited organic acidemia Orphanet:79158 owl:Class MONDO:0000688 biolink:NamedThing inherited organic acidemia An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. mondoexuq1wtf disorder of organic acid metabolism|rare inborn error of organic acid metabolic process|organic acid metabolism disorder|inborn error of organic acid metabolic process|organic acidemia|inborn organic acid metabolic process disorder|organic aciduria UMLS:C1263739|GARD:0009433|Orphanet:289899|NCIT:C101334|DOID:0060159|ICD9:277.89 https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia owl:Class MONDO:0023528 biolink:NamedThing KSHV inflammatory cytokine syndrome A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. mondoexuq1wtf KICS|KSHV inflammatory cytokine syndrome|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome NCIT:C125711|UMLS:C4086533|GARD:0010827 https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome owl:Class MONDO:0021670 biolink:NamedThing post-infectious syndrome mondoexuq1wtf owl:Class MONDO:0003816 biolink:NamedThing articular cartilage disease A disease involving the articular cartilage of joint. mondoexuq1wtf articular cartilage disorder involving upper arm|articular cartilage of joint disease or disorder|articular cartilage disorder involving pelvic region and thigh|disorder of articular cartilage|disease or disorder of articular cartilage of joint|articular cartilage of joint disease|articular cartilage disorder involving multiple sites|articular cartilage disorder of the pelvic region and thigh|articular cartilage disorder involving forearm|disease of articular cartilage of joint|articular cartilage disorder involving hand|articular cartilage disorder involving ankle and foot|articular cartilage disorder of shoulder region|articular cartilage disorder involving shoulder region|articular cartilage disorder of ankle and/or foot|disorder of articular cartilage of joint|articular cartilage disorder of forearm|articular cartilage disorder of hand|articular cartilage disorder of multiple sites|articular cartilage disorder of upper arm|articular cartilage disorder ICD9:718.0|DOID:6227|ICD9:718.02|SCTID:53417006|UMLS:C0158073|ICD9:718.00 owl:Class MONDO:0006816 biolink:NamedThing arthropathy Any disorder of the joints. mondoexuq1wtf disorder of skeletal joint|arthrosis|Joint ankylosis of the ankle and/or foot|ankylosis of joint of upper arm|infectious arthropathy|Joint ankylosis of the shoulder region|Joint ankylosis of the pelvic region and thigh|ankylosis of joint of lower leg|disease of skeletal joint|ankylosis of multiple joints|disease or disorder of skeletal joint|ankylosis of joint of hand|ankylosis of joint of pelvic region and thigh|Joint disorder|ankylosis of lower leg joint|arthropathy|ankylosis of forearm joint|Joint ankylosis of the hand|Joint ankylosis of the upper arm|Joint ankylosis of the lower leg|ankylosis of joint of shoulder region|joint disorder|skeletal joint disease or disorder|disorder of joint|skeletal joint disease|joint disease|disorder, Joint|ankylosis of hand joint|ankylosis of joint of ankle and/or foot|ankylosis of joint of forearm|Joint ankylosis of the forearm|Joint ankylosis of the ankle and foot|ankylosis of upper arm joint|ankylosis of joint of multiple sites|ankylosis of ankle and foot joint ICD9:719.9|ICD9:716.80|ICD9:719.88|ICD9:716.90|NCIT:C35760|UMLS:C0022408|SCTID:399269003|ICD9:716.9|COHD:73553|ICD9:719.80|ICD9:719.89|ICD10:M12.9|ICD10:M19.90|MESH:D007592|ICD10:M15.M19|ICD10:M25.9|MedDRA:10003285|ICD9:719.90|ICD9:719.98|DOID:381|ICD9:716.88|ICD10:M00-M02|ICD9:711|EFO:1000999|ICD9:716.98 owl:Class MONDO:0005166 biolink:NamedThing osteoma A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. mondoexuq1wtf osteoma, benign|osteoma (disease)|osteoma osteoma (disease) SCTID:302858007|UMLS:C0029440|EFO:0002423|ICDO:9180/0|HP:0100246|MESH:D010016|NCIT:C3296 owl:Class MONDO:0000631 biolink:NamedThing bone benign neoplasm A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. mondoexuq1wtf benign neoplasm of the bone|benign tumor of bone|bone tissue benign neoplasm|benign bone neoplasm|benign tumor of the bone|benign neoplasm of bone|benign bone tumor|benign osseous tumor|benign osseous neoplasm ICD9:213.9|SCTID:92027006|COHD:74606|NCIT:C4880|DOID:0060094 owl:Class MONDO:0019656 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis mondoexuq1wtf Orphanet:93220|ICD10:N04.8|UMLS:CN206529 owl:Class MONDO:0019401 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. mondoexuq1wtf sporadic idiopathic nephrosis SCTID:717191005|ICD10:N04.3|Orphanet:84271|UMLS:C4274017|ICD10:N04.1|ICD10:N04.8 owl:Class MONDO:0003599 biolink:NamedThing vulvar liposarcoma A rare malignant adipose tissue neoplasm of the vulva. mondoexuq1wtf liposarcoma of mammalian vulva|mammalian vulva liposarcoma|vulvar liposarcoma DOID:5711|NCIT:C40321|UMLS:C2184082 owl:Class MONDO:0000248 biolink:NamedThing dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. mondoexuq1wtf DSS UMLS:C0376300|MESH:D019595|DOID:0050125|SCTID:409671005 owl:Class MONDO:0020702 biolink:NamedThing autosomal dominant epidermolytic ichthyosis mondoexuq1wtf owl:Class MONDO:0007239 biolink:NamedThing epidermolytic hyperkeratosis Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. mondoexuq1wtf epidermolytic hyperkeratosis, late-onset|congenital bullous ichthyosiform erythroderma|bullous ichthyosiform erythroderma|bullous ichthyosis|bullous ichthyosiform erythroderma congenita|EHK|epidermolytic ichthyosis|ichthyosis hystrix Brocq type|epidermolytic hyperkeratosis|bullous congenital ichthyosiform erythroderma of Brock|BCIE|EI|bullous congenital ichthyosiform erythroderma|autosomal dominant epidermolytic ichthyosis|epidermolytic palmoplantar hyperkeratosis|bullous erythroderma Ichthyosiformis congenita of Brocq Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? SCTID:254167000|MESH:D017488|NCIT:C62569|OMIM:113800|ICD10:Q80.3|GARD:0001039|Orphanet:312|DOID:4603 owl:Class MONDO:0044807 biolink:NamedThing inherited dystonia An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary dystonic disorder|familial dystonia|rare genetic dystonic disorder|rare genetic dystonia NCIT:C35527|Orphanet:391799|OMIMPS:128100|UMLS:CN227322 owl:Class MONDO:0044339 biolink:NamedThing lumbar disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. mondoexuq1wtf degeneration of lumbar intervertebral disc|degenerative disc disorder|lumbar Disc Degeneration|lumbar region of vertebral column intervertebral disc degenerative disorder|intervertebral DISC disease|lumbar disc disease|lumbar Disc degenerative disorder|intervertebral disc disease|lumbar disc degeneration, susceptibility to|intervertebral disc degenerative disorder of lumbar region of vertebral column|IDD|lumbar Disc degenerative disease|lumbar disc herniation, susceptibility to|degenerative disc disease MESH:C535531|NCIT:C27154|EFO:0004994|OMIM:603932|SCTID:26538006 owl:Class MONDO:0011385 biolink:NamedThing intervertebral disc degenerative disorder Any disease of a degenerative nature that affects the intervertebral disc. mondoexuq1wtf intervertebral Disc degenerative disease|intervertebral Disc degenerative disorder|intervertebral Disc Degeneration|IDD|vertebral Disc degenerative disorder|degenerative disc disease|intervertebral disc disease|cervical disc degenerative disease|intervertebral disk degenerative disorder|lumbar disc degeneration|intervertebral disc degeneration|degenerative disorder of intervertebral disk|vertebral disc disease|vertebral Disc degenerative disease DOID:90|ICD9:722.6|COHD:80816|MESH:D055959|SCTID:77547008|UMLS:C0158266|NCIT:C26983 owl:Class MONDO:0020225 biolink:NamedThing syndromic cataract A cataract (disease) that is part of a larger syndrome. mondoexuq1wtf syndromic cataract (disease)|syndrome associated with cataract (disease) Orphanet:98641|UMLS:CN227829 owl:Class MONDO:0015354 biolink:NamedThing hereditary sensory and autonomic neuropathy with deafness and global delay This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. mondoexuq1wtf HSAN with deafness and global delay UMLS:CN226662|ICD10:G60.8|SCTID:717826009|UMLS:C4303566|Orphanet:139573 owl:Class MONDO:0012460 biolink:NamedThing autosomal recessive nonsyndromic deafness 67 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. mondoexuq1wtf LHFPL5 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 67|DFNB67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|deafness, autosomal recessive type 67|autosomal recessive nonsyndromic deafness type 67|deafness, autosomal recessive 67 MESH:C565207|DOID:0110518|OMIM:610265|ICD10:H90.3|UMLS:C1853223 owl:Class MONDO:0021635 biolink:NamedThing neurocristopathy That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. mondoexuq1wtf disorder of neural crest development|neural crest cell development disease|disorder of neural crest cell development owl:Class MONDO:0015657 biolink:NamedThing inflammatory and autoimmune disease with epilepsy mondoexuq1wtf UMLS:CN200066|Orphanet:166484 owl:Class MONDO:0003360 biolink:NamedThing small intestine leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. mondoexuq1wtf leiomyosarcoma of the small bowel|leiomyosarcoma of the small intestine|leiomyosarcoma of small bowel|small bowel leiomyosarcoma|smooth muscle connective tissue tumor|small intestinal leiomyosarcoma|leiomyosarcoma of small intestine|small intestine leiomyosarcoma SCTID:716651004|ICD10:C17.1|Orphanet:104076|NCIT:C7085|DOID:5271|UMLS:C0920305|ICD10:C17.0|ICD10:C17.3|ICD10:C17.2|ICD10:C17.8 owl:Class MONDO:0003361 biolink:NamedThing small intestinal sarcoma A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. mondoexuq1wtf sarcoma of the small intestine|small bowel sarcoma|small intestinal sarcoma|sarcoma of small bowel|sarcoma of small intestine|sarcoma of the small bowel|small intestine sarcoma|sarcoma, small intestinal NCIT:C5335|DOID:5272|UMLS:C1336007 owl:Class MONDO:0020724 biolink:NamedThing cerebral cavernous malformation 1 mondoexuq1wtf hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cavernous angioma, familial|cerebral capillary malformations|CCM|cavernous angiomatous malformations|cerebral cavernous malformations|familial cerebral cavernous malformation 1|cavernous malformations of CNS and retina|cerebral cavernous malformations 1 DOID:0080491|OMIM:116860 owl:Class MONDO:0013679 biolink:NamedThing sclerosteosis 2 Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene. mondoexuq1wtf LRP4 sclerosteosis|SOST2|sclerosteosis 2|sclerosteosis caused by mutation in LRP4|sclerosteosis type 2 DOID:0060757|UMLS:C3280402|OMIM:614305|ICD10:M85.2 owl:Class MONDO:0017838 biolink:NamedThing sclerosteosis Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. mondoexuq1wtf cortical hyperostosis with syndactyly|cortical hyperostosis-syndactyly syndrome SCTID:17568006|MESH:C537525|DOID:0060251|NCIT:C131133|UMLS:C0265301|GARD:0004771|OMIMPS:269500|Orphanet:3152|ICD10:M85.2|ICD9:756.59 owl:Class MONDO:0021383 biolink:NamedThing neoplasm of floor of mouth A neoplasm (disease) that involves the mouth floor. mondoexuq1wtf floor of mouth tumor|neoplasm of the floor of the mouth|tumor of floor of mouth|floor of mouth neoplasm|tumor of mouth floor|mouth floor tumor|neoplasm of mouth floor|mouth floor neoplasm|floor of the mouth tumor|mouth floor neoplasm (disease)|floor of the mouth neoplasm|tumor of the floor of the mouth SCTID:126799003|UMLS:C0345538|NCIT:C4401 owl:Class MONDO:0021223 biolink:NamedThing digestive system neoplasm A neoplasm (disease) that involves the digestive system. mondoexuq1wtf neoplasm of GI system|digestive system tumor|tumor of the gastrointestinal system|neoplasm of the digestive system|neoplasm of the GI system|gastrointestinal tumor|GI neoplasm|gastrointestinal neoplasm|digestive neoplasm|gastrointestinal system tumor|digestive system neoplasm (disease)|tumor of GI system|neoplasm of gastrointestinal system|tumor of the GI system|GI tumor|digestive tumor|neoplasm of digestive system|tumor of gastrointestinal system|GI system neoplasm|tumor of digestive system|GI system tumor|neoplasm of the gastrointestinal system|gastrointestinal system neoplasm|tumor of the digestive system EFO:0008549|NCIT:C3052|MESH:D005770 owl:Class MONDO:0015637 biolink:NamedThing benign non-familial infantile seizures mondoexuq1wtf Orphanet:166295|ICD10:G40.4|UMLS:CN226716 owl:Class MONDO:0015642 biolink:NamedThing benign partial infantile seizures mondoexuq1wtf Orphanet:166311 owl:Class MONDO:0016990 biolink:NamedThing acquired prothrombin deficiency An instance of prothrombin deficiency that is acquired during the lifetime of the individual. mondoexuq1wtf hypoprothrombinemia, acquired|acquired prothrombin deficiency|acquired factor II deficiency|acquired hypoprothrombinemia ICD10:D68.4|Orphanet:26348|MESH:C538174|NCIT:C131622|UMLS:C0392610|SCTID:4152002|GARD:0000475 owl:Class MONDO:0024307 biolink:NamedThing prothrombin deficiency mondoexuq1wtf owl:Class MONDO:0005621 biolink:NamedThing vascular brain injury Damage to the blood vessels of the brain mondoexuq1wtf Brain Vascular injury|Vascular Traumas, Brain|injury, Vascular, Brain|injury, Vascular Brain|trauma, cerebrovascular|Brain Vascular trauma|Vascular injury, Brain|trauma, Brain Vascular|Vascular trauma, Brain|Vascular Brain injury|Vascular Brain Injuries|Brain injury, Vascular|injury, Brain Vascular EFO:0006791|MESH:D020214 owl:Class MONDO:0043510 biolink:NamedThing brain injury Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. mondoexuq1wtf brain injury|brain trauma|injury of brain|brain Traumas MESH:D001930 owl:Class MONDO:0012556 biolink:NamedThing DK1-CDG DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. mondoexuq1wtf Dk1 deficiency|CDGIm|congenital disorder of glycosylation, type Im|CDG1M|DOLK-CDG (CDG-Im)|hypotonia and ichthyosis due to dolichol phosphate deficiency|CDG syndrome type Im|congenital disorder of glycosylation type Im|CDG Im|carbohydrate deficient glycoprotein syndrome type Im|dolichol kinase deficiency|CDG-Im|congenital disorder of glycosylation type 1m OMIM:610768|GARD:0012393|SCTID:718712005|ICD10:E77.8|MESH:C563666|Orphanet:91131|DOID:0080565 owl:Class MONDO:0010150 biolink:NamedThing head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. mondoexuq1wtf craniocervical region squamous cell carcinoma|squamous cell carcinomas of head and neck|HNSCC|carcinoma of the head and neck|squamous cell carcinoma of the head and neck|SCCHN|squamous cell carcinoma of head and neck|head and neck squamous cell carcinoma|squamous cell carcinoma, head and neck SCTID:716659002|Orphanet:67037|MESH:C535575|MedDRA:10060121|EFO:0000181|DOID:5520|NCIT:C34447|UMLS:C1168401|OMIM:275355|ONCOTREE:HNSC owl:Class MONDO:0005096 biolink:NamedThing squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. mondoexuq1wtf squamous cell cancer|malignant epidermoid cell neoplasm|malignant squamous cell neoplasm|squamous cell carcinoma (morphologic abnormality)|carcinoma, squamous cell, malignant|epidermoid cell cancer|squamous carcinoma|squamous cell epithelioma|squamous cell carcinoma NOS (morphologic abnormality)|malignant epidermoid cell tumor|squamous cell carcinoma|epidermoid carcinoma|malignant squamous cell tumor NCIT:C2929|DOID:1749|EFO:0000707|MESH:D002294|GARD:0001091|SCTID:402815007|ICDO:8070/3|UMLS:C0007137 owl:Class MONDO:0011814 biolink:NamedThing Smith-McCort dysplasia 1 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. mondoexuq1wtf Smith-McCort dysplasia 1|DYM Smith-McCort dysplasia|SMC|Smc1|Smith-McCort dysplasia type 1|Smith-McCort dysplasia caused by mutation in DYM|SMITH-McCort dysplasia 1 OMIM:607326|UMLS:C3888088 owl:Class MONDO:0015799 biolink:NamedThing Smith-McCort dysplasia Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. mondoexuq1wtf Smith-McCort dwarfism|Smith McCort dysplasia ICD10:Q77.7|OMIMPS:607326|DOID:0060247|GARD:0010620|SCTID:715862006|MESH:C564589|Orphanet:178355 https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia owl:Class MONDO:0021080 biolink:NamedThing blood vessel neoplasm A neoplasm arising from arteries or veins. mondoexuq1wtf blood vessel neoplasm|neoplasm of blood vessel|blood vessel neoplasm (disease)|blood vessel tumor|tumor of blood vessel NCIT:C7387|SCTID:126736007 owl:Class MONDO:0007214 biolink:NamedThing brachydactyly-preaxial hallux varus syndrome Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. mondoexuq1wtf Christian brachydactyly|preaxial brachydactyly with hallux varus and thumb abduction|dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction|brachydactyly preaxial with hallux varus and thumb abduction ICD10:Q73.8|DOID:0110962|MESH:C537087|UMLS:C1862162|Orphanet:1278|OMIM:112450|GARD:0000972 owl:Class MONDO:0009005 biolink:NamedThing complement component C1r/C1s deficiency Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. mondoexuq1wtf complement component C1r/C1s deficiency|C1r/C1s deficiency NCIT:C119991|OMIM:216950|UMLS:C3150274 owl:Class MONDO:0015699 biolink:NamedThing immunodeficiency due to a classical component pathway complement deficiency mondoexuq1wtf immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency ICD10:D84.1|Orphanet:169147 owl:Class MONDO:0013836 biolink:NamedThing familial steroid-resistant nephrotic syndrome with sensorineural deafness mondoexuq1wtf coenzyme Q10 deficiency, primary, 6|COQ10D6|coenzyme Q10 deficiency, primary, type 6 OMIM:614650|Orphanet:280406|ICD10:N04.8|DOID:0070243|UMLS:C3553349 owl:Class MONDO:0018151 biolink:NamedThing coenzyme Q10 deficiency A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. mondoexuq1wtf CoQ10 deficiency|coenzyme Q10 deficiency disease|CoQ10 deficiency, primary|coenzyme Q10 deficiency, primary SCTID:724575009|DOID:0050730|GARD:0010423|UMLS:CN229570|OMIMPS:607426|Orphanet:35656|NCIT:C142083|UMLS:C1843920|MESH:C564403 https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency owl:Class MONDO:0006104 biolink:NamedThing benign carotid body paraganglioma A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. mondoexuq1wtf chemodectoma, benign|benign chemodectoma|benign carotid body paraganglioma|carotid body paraganglioma, benign NCIT:C79950|UMLS:C2698359|EFO:1000108 owl:Class MONDO:0021148 biolink:NamedThing female reproductive system neoplasm A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. mondoexuq1wtf neoplasm of the female reproductive system|tumor of female reproductive system|female reproductive system neoplasm (disease)|gynecologic neoplasm|female reproductive organ tumor|female reproductive organ neoplasm (disease)|neoplasm of female reproductive organ|neoplasm of female reproductive system|female reproductive system tumor|female reproductive system neoplasm|tumor of the female reproductive system|gynecologic tumor EFO:1001331|UMLS:C0017416|MESH:D005833|NCIT:C3053 owl:Class MONDO:0000651 biolink:NamedThing thoracic disease A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. mondoexuq1wtf disease of thoracic segment of trunk|disorder of thorax|thoracic disease|thoracic segment of trunk disease or disorder|thoracic disorder|disorder of thoracic segment of trunk|thoracic segment of trunk disease|disease or disorder of thoracic segment of trunk UMLS:C0039978|DOID:0060118|MESH:D013896|NCIT:C35742|SCTID:609622007|SCTID:118946009|UMLS:C3661979 owl:Class MONDO:0019158 biolink:NamedThing tropical endomyocardial fibrosis Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. mondoexuq1wtf TEMF|Davies disease Orphanet:75565|SCTID:715626008|ICD10:I42.3|UMLS:CN205710|UMLS:C2882252 owl:Class MONDO:0016345 biolink:NamedThing non-familial restrictive cardiomyopathy mondoexuq1wtf EFO:1001473|Orphanet:217720|UMLS:CN226908 owl:Class MONDO:0001342 biolink:NamedThing dysgammaglobulinemia An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. mondoexuq1wtf dysgammaglobulinemia (disease)|dysgammaglobulinemia|dysgammaglobulinemia (finding) dysgammaglobulinemia (disease) UMLS:C0013374|DOID:11702|HP:0002961|MESH:D004406|SCTID:123782009 owl:Class MONDO:0003739 biolink:NamedThing selective immunoglobulin deficiency disease A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. mondoexuq1wtf selective Immunoglobulin isotype deficiency NCIT:C27870|UMLS:C1335942|DOID:6025 owl:Class MONDO:0016365 biolink:NamedThing familial primary hyperparathyroidism An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary primary hyperparathyroidism (disease) UMLS:CN201220|GARD:0002837|Orphanet:2207|ICD10:E21.0 owl:Class MONDO:0016166 biolink:NamedThing genetic hyperparathyroidism Genetic hyperparathyroidism. mondoexuq1wtf genetic hyperparathyroidism Orphanet:208596|OMIMPS:145000 owl:Class MONDO:0019868 biolink:NamedThing mosaic trisomy 10 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. mondoexuq1wtf uniparental disomy of 10|Mosaic trisomy type 10|trisomy 10 mosaicism|mosaic trisomy 10|Mosaic trisomy chromosome 10|chromosome 10, uniparental disomy GARD:0005406|Orphanet:96063|ICD10:Q92.1|MESH:C538292|UMLS:CN035866|SCTID:764461004 owl:Class MONDO:0700065 biolink:NamedThing trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. mondoexuq1wtf chromosomal triplication http://orcid.org/0000-0002-4142-7153 GARD:0006065|NCIT:C3421 owl:Class MONDO:0014248 biolink:NamedThing autism spectrum disorder - epilepsy - arthrogryposis syndrome SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). mondoexuq1wtf SLC35A3-CDG|AMRS|arthrogryposis, mental retardation, and seizures|arthrogryposis, intellectual disability, and seizures OMIM:615553|Orphanet:370943|UMLS:C3809910|ICD10:Q87.8 owl:Class MONDO:0005118 biolink:NamedThing human granulocytic ehrlichiosis A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. mondoexuq1wtf infection by Anaplasma phagocytophilum|human ehrlichial infection, human granulocytic type|human granulocytic anaplasmosis|human granulocytic ehrlichiosis|human anaplasmosis due to Anaplasma phagocytophilum|human anaplasmosis caused by Anaplasma phagocytophilum|HGE EFO:0000777|SCTID:85708001|GARD:0000071|ICD9:082.49|DOID:0050025 owl:Class MONDO:0011878 biolink:NamedThing Worth syndrome A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate. mondoexuq1wtf VBCH2|osteosclerosis of the skull and enlarged mandible|benign form of Worth hyperostosis corticalis generalisata with torus platinus|autosomal dominant endosteal hyperostosis|autosomal dominant osteosclerosis|Worth's syndrome|Van Buchem disease type 2|Van Buchem disease, type 2 GARD:0009488|SCTID:254131007|DOID:0080037|OMIM:607636 owl:Class MONDO:0002185 biolink:NamedThing hyperostosis Excessive thickening of bone. mondoexuq1wtf bone hypertrophy|hypertrophy of bone|hypertrophy of bone (morphologic abnormality) MESH:D015576|SCTID:203514008|ICD10:M89.3|DOID:205|UMLS:C0020492|ICD9:733.99|ICD10:M89.30|NCIT:C34712 owl:Class MONDO:0009715 biolink:NamedThing myotonia congenita, autosomal recessive Autosomal recessive form of myotonia congenita. mondoexuq1wtf myotonia, generalized|Becker disease|myotonia congenita, autosomal recessive|autosomal recessive myotonia congenita UMLS:C0751360|OMIM:255700 owl:Class MONDO:0029136 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 23 mondoexuq1wtf LGMDR23|muscular dystrophy, limb-girdle, autosomal recessive 23|laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Orphanet:565837|OMIM:618138 owl:Class MONDO:0012559 biolink:NamedThing primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. mondoexuq1wtf immunodeficiency due to defect in Mapbp-interacting Protein|immunodeficiency due to defect in MAPBP-interacting PROTEIN|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency ICD10:D82.8|UMLS:C4305256|SCTID:718717004|UMLS:C1835829|Orphanet:90023|OMIM:610798|MESH:C563663 owl:Class MONDO:0015134 biolink:NamedThing constitutional neutropenia A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. mondoexuq1wtf Kostmann syndrome|Kostmann disease|genetic infantile agranulocytosis|congenital neutropenia|infantile genetic agranulocytosis|Kostmann neutropenia COHD:434895|Orphanet:101987|NCIT:C61242|ICD10:D70 owl:Class MONDO:0017118 biolink:NamedThing syndrome with a cerebellar malformation as major feature mondoexuq1wtf UMLS:CN202468|Orphanet:269523 owl:Class MONDO:0018724 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome mondoexuq1wtf Orphanet:459070|UMLS:CN242161 owl:Class MONDO:0022435 biolink:NamedThing Mauriac syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. mondoexuq1wtf Mauriac syndrome|Mauriac's syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome GTR:AN0543890|UMLS:C0221005|GTR:AN0543843|NCIT:C130997|SCTID:80660001|ICD9:258.1 owl:Class MONDO:0011214 biolink:NamedThing progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. mondoexuq1wtf progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|cholestasis, progressive familial intrahepatic, 3|Mdr3 deficiency|cholestasis, progressive familial intrahepatic, type 3|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|PFIC3|ABCB4 progressive familial intrahepatic cholestasis OMIM:602347|UMLS:C1865643|DOID:0070223|GARD:0001289|ICD10:K76.8|Orphanet:79305|MESH:C535935 https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 owl:Class MONDO:0017191 biolink:NamedThing sporadic pheochromocytoma mondoexuq1wtf Orphanet:276624|ICD10:D35.0|UMLS:CN202631|ICD10:C74.1 owl:Class MONDO:0017190 biolink:NamedThing sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. mondoexuq1wtf Orphanet:276621|ICD10:D35.0|GARD:0007385|ICD10:C74.1|UMLS:CN202630 owl:Class MONDO:0016433 biolink:NamedThing dysmorphism-short stature-deafness-disorder of sex development syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. mondoexuq1wtf Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome UMLS:CN201392|Orphanet:2282|ICD10:Q87.8 owl:Class MONDO:0015404 biolink:NamedThing rapidly involuting congenital hemangioma Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. mondoexuq1wtf rich UMLS:C1275421|Orphanet:141184|SCTID:703294004|ICD10:D18.0 owl:Class MONDO:0018715 biolink:NamedThing congenital hemangioma A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). mondoexuq1wtf congenital angioma|congenital hemangioma Editor note: this is distinct from inflantile hemangioma SCTID:32361000119104|NCIT:C3841|Orphanet:458775|UMLS:C0235753 owl:Class MONDO:0016010 biolink:NamedThing vitamin K-antagonist embryofetopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. mondoexuq1wtf vitamin K-antagonist embryopathy|embryofetopathy due to oral anticoagulant therapy|coumarin embryopathy|vitamin K antagonist embryofetopathy|vitamin K antagonists embryofetopathy|vitamin K-antagonist embryofetopathy|vitamin K antagonist embryopathy|fetal anticoagulant syndrome|DiSala syndrome|fetal Coumadin syndrome|warfarin embryopathy|di Sala syndrome|warfarin syndrome|fetal warfarin syndrome|coumarin syndrome|warfarin embryofetopathy|congenital warfarin syndrome ICD10:Q86.2|UMLS:C0265374|MESH:C536683|NCIT:C98906|SCTID:38323006|MedDRA:10051445|Orphanet:1914|GARD:0008580|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome owl:Class MONDO:0016677 biolink:NamedThing toxic or drug-related embryofetopathy Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. mondoexuq1wtf MESH:D000014|Orphanet:251529 owl:Class MONDO:0007501 biolink:NamedThing preauricular fistulae, congenital mondoexuq1wtf Pafc|preauricular fistulae, congenital|Ear pits MESH:C563015|OMIM:128700 owl:Class MONDO:0024536 biolink:NamedThing glucocorticoid deficiency 1 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene. mondoexuq1wtf glucocorticoid deficiency 1|adrenal unresponsiveness to ACTH|ACTH resistance|familial glucocorticoid deficiency caused by mutation in MC2R|GCCD1|MC2R familial glucocorticoid deficiency|familial glucocorticoid deficiency 1 UMLS:C1859974|DOID:0080621|OMIM:202200 owl:Class MONDO:0008733 biolink:NamedThing familial glucocorticoid deficiency Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. mondoexuq1wtf glucocorticoid deficiency|GCCD OMIMPS:202200|MESH:C565974|GARD:0002498|NCIT:C120446|Orphanet:361|DOID:0080620|ICD10:E27.1|SCTID:765326001|UMLS:CN204661 https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency owl:Class MONDO:0018107 biolink:NamedThing idiopathic recurrent and disabling cutaneous herpes mondoexuq1wtf ICD10:B00.1|UMLS:CN204468|Orphanet:35061 owl:Class MONDO:0012555 biolink:NamedThing Cornelia de Lange syndrome 3 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. mondoexuq1wtf Cornelia De Lange syndrome type 3|CDLS3|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3|Smc3 Cornelia de Lange syndrome|Cornelia de Lange syndrome 3|SMC3 Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in SMC3 OMIM:610759|UMLS:C1853099|DOID:0080507 owl:Class MONDO:0016033 biolink:NamedThing Cornelia de Lange syndrome A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. mondoexuq1wtf De Lange syndrome|Brachmann-de Lange syndrome|CDLS|Brachmann de Lange syndrome DOID:11725|UMLS:CN239271|UMLS:C0270972|GARD:0010109|OMIMPS:122470|Orphanet:199|NCIT:C75016|MedDRA:10056354|ICD10:Q87.1 owl:Class MONDO:0018015 biolink:NamedThing intermittent hydrarthrosis mondoexuq1wtf Orphanet:329967|SCTID:711286009|UMLS:C0149910|ICD10:M12.4 owl:Class MONDO:0005554 biolink:NamedThing rheumatic disorder Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. mondoexuq1wtf rheumatism|enthesopathies|musculoskeletal pain disorder|rheumatologic disorder|inflammatory rheumatism|collagen vascular disease|collagen disease|diseases, rheumatic|disease, rheumatic|connective tissue disease|enthesopathy|rheumatic disease This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue ICD9:729.0|EFO:0005755|MESH:D012216|NCIT:C27204|UMLS:C0035435|Wikipedia:Rheumatism|SCTID:396332003|DOID:1575 owl:Class MONDO:0009151 biolink:NamedThing cleft lip/palate-ectodermal dysplasia syndrome An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. mondoexuq1wtf cleft lip with or without cleft palate, nonsyndromic, 7|Bustos Simosa pinto Cisternas syndrome|ectodermal dysplasia, type 4|Zlotogora-Zilberman-Tenenbaum syndrome|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|ectodermal dysplasia type 4|CLEPD|Zlotogora-Ogur syndrome|syndactyly-ectodermal dysplasia-cleft/lip palate|Zlotogora syndrome|cleft lip/palate-syndactyly-pili torti syndrome|orofacial cleft 7|ED4|CLPED1|autosomal recessive ectodermal dysplasia|ectodermal dysplasia, margarita Island type|cleft lip/palate-ectodermal dysplasia syndrome|ectodermal dysplasia margarita island type|margarita type of ectodermal dysplasia|cleft lip-palate-ectodermal dysplasia syndrome|cleft lip/palate-syndactyly-pili torti GARD:0001045|DOID:0080400|UMLS:CN229116|Orphanet:3253|SCTID:716248001|Orphanet:320317|OMIM:225060|DOID:0060773|NCIT:C122656|GARD:0000375 owl:Class MONDO:0044313 biolink:NamedThing intellectual disability, autosomal recessive 60 mondoexuq1wtf intellectual disability, autosomal recessive 60|MRT60|mental retardation, autosomal recessive 60 OMIM:617432 owl:Class MONDO:0019502 biolink:NamedThing autosomal recessive non-syndromic intellectual disability Autosomal recessive form of non-syndromic intellectual disability. mondoexuq1wtf autosomal recessive mental retardation|mental retardation, autosomal recessive|autosomal recessive intellectual disability|autosomal recessive non-syndromic mental retardation|intellectual disability, autosomal recessive|NS-ARID|AR-NSID|autosomal recessive non-syndromic intellectual disability|non-syndromic intellectual disability, autosomal recessive Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 UMLS:CN206293|Orphanet:88616|DOID:0060308|OMIMPS:249500 owl:Class MONDO:0002698 biolink:NamedThing testicular gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. mondoexuq1wtf testis gonadoblastoma|testicular gonadoblastoma|testicular gonadoblastoma (disease)|gonadoblastoma of testis testicular gonadoblastoma (disease) HP:0000030|DOID:3579|UMLS:C1515283|NCIT:C39911 owl:Class MONDO:0010768 biolink:NamedThing gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. mondoexuq1wtf gonadoblastoma|gonad blastoma DOID:3301|MESH:D018238|UMLS:C0206661|ICDO:9073/1|ONCOTREE:OGBL|ICD10:D39.1|NCIT:C3754 owl:Class MONDO:0011008 biolink:NamedThing cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. mondoexuq1wtf cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson Clemens syndrome|McPherson-Clemens syndrome UMLS:C2931750|Orphanet:2001|ICD10:Q87.8|MESH:C538160|GARD:0003430|OMIM:601165|SCTID:719456001 owl:Class MONDO:0017362 biolink:NamedThing neuralgic amyotrophy Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. mondoexuq1wtf brachial plexus neuritis|acute brachial plexus neuritis|neuralgic shoulder amyotrophy|immune brachial plexus neuropathy|mononeuritis multiplex with brachial predilection ICD10:G54.5|COHD:377271|Orphanet:2901|MedDRA:10063020 owl:Class MONDO:0017235 biolink:NamedThing familial omphalocele syndrome with facial dysmorphism Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. mondoexuq1wtf UMLS:CN202726|Orphanet:280403 owl:Class MONDO:0014554 biolink:NamedThing infantile multisystem neurologic-endocrine-pancreatic disease mondoexuq1wtf neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|IMNEPD UMLS:C4015728|OMIM:616263|Orphanet:456312 owl:Class MONDO:0015361 biolink:NamedThing autosomal recessive hereditary demyelinating motor and sensory neuropathy mondoexuq1wtf AR demyelinating HMSN UMLS:CN228928|ICD10:G60.0|Orphanet:140459 owl:Class MONDO:0017105 biolink:NamedThing glioependymal/ependymal cyst Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). mondoexuq1wtf Orphanet:269197 owl:Class MONDO:0017104 biolink:NamedThing central nervous system cystic malformation mondoexuq1wtf Orphanet:269194 owl:Class MONDO:0043075 biolink:NamedThing neuroaxonal dystrophy renal tubular acidosis mondoexuq1wtf Maccario Mena weir syndrome|CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr UMLS:C2931479|MESH:C537386|GARD:0000349 owl:Class MONDO:0001955 biolink:NamedThing protozoal dysentery A dysentery that involves protozoan infection. mondoexuq1wtf DOID:14397|ICD10:A07.8|ICD10:B50.B64|ICD9:007.8 owl:Class MONDO:0024270 biolink:NamedThing parasitic intestinal disease Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. mondoexuq1wtf diseases, parasitic intestinal|intestinal disease, parasitic|parasitic intestinal disease|disease, parasitic intestinal|parasitic intestinal diseases|intestine parasitic infection UMLS:C0021832|MESH:D007411 owl:Class MONDO:0001784 biolink:NamedThing malignant renovascular hypertension mondoexuq1wtf malignant renal artery stenosis|malignant renal hypertension DOID:13730 owl:Class MONDO:0000959 biolink:NamedThing malignant hypertensive renal disease mondoexuq1wtf ICD9:403.00|UMLS:C0155593|SCTID:65443008|DOID:10177|COHD:442766 owl:Class MONDO:0009987 biolink:NamedThing autosomal recessive pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. mondoexuq1wtf retinitis pigmentosa, pericentral|retinopathy, pericentral pigmentary, autosomal recessive OMIM:268060|DOID:0110422|ICD10:H35.5|UMLS:C1849398|MESH:C564838 owl:Class MONDO:0010933 biolink:NamedThing autosomal recessive nonsyndromic deafness 4 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. mondoexuq1wtf neurosensory nonsyndromic recessive deafness 4|deafness, autosomal recessive 4, with enlarged vestibular aqueduct|autosomal recessive deafness 4 with enlarged vestibular aqueduct|DFNB4|autosomal recessive nonsyndromic deafness type 4|dilated vestibular aqueduct DOID:0110498|MESH:C566366|ICD10:H90.3|OMIM:600791 owl:Class MONDO:0006634 biolink:NamedThing pituitary gland acidophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. mondoexuq1wtf pituitary gland acidophil adenoma|acidophil adenoma|eosinophil adenoma ICDO:8280/0|DOID:5392|MESH:D000239|UMLS:C0001433|EFO:1000791|NCIT:C6780 owl:Class MONDO:0015445 biolink:NamedThing autosomal dominant coarctation of aorta Autosomal dominant form of aorta coarctation. mondoexuq1wtf autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant Orphanet:1455|ICD10:Q25.1 owl:Class MONDO:0060707 biolink:NamedThing Ververi-Brady syndrome mondoexuq1wtf VERBRAS|Ververi-Brady syndrome Orphanet:580940|UMLS:CN244927|OMIM:617982 owl:Class MONDO:0005724 biolink:NamedThing cryptococcosis An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 mondoexuq1wtf torulosis|European cryptococcosis|Cryptococcus neoformans disease or disorder|Cryptococcal infection|cryptococcus neoformans infection|Cryptococcus neoformans caused disease or disorder|torula|Busse-Buschke's disease|Cryptococcus neoformans infectious disease EFO:0007229|MedDRA:10011490|MESH:D003453|DOID:12053|NCIT:C2967|ICD10:B45.3|ICD10:B45.8|UMLS:C0010414|ICD10:B45.0|ICD10:B45.2|ICD10:B45.9|ICD10:B45|Orphanet:1546|SCTID:42386007|ICD10:B45.7|COHD:440035|ICD10:B45.1|ICD9:117.5|GARD:0006218 https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis owl:Class MONDO:0005135 biolink:NamedThing parasitic infectious disease A successful invasion of a host by an organism that uses the host for food and shelter. mondoexuq1wtf parasitosis|parasitic disease|parasitism|parasitic infection|infestation|diseases, parasitic|disease caused by parasite|parasitemia|parasitic infectious disease|ectoparasitic disease|disease, parasitic|parasite infestation ICD9:134.8|ICD9:376.13|ICD9:360.13|MESH:D010272|EFO:0001067|ICD9:134.9|ICD9:136.4|DOID:1398|NCIT:C27864|ICD9:129|SCTID:17322007|ICD9:136.9|ICD10:H44.12|ICD9:136.8 owl:Class MONDO:0018002 biolink:NamedThing adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. mondoexuq1wtf adult-onset CPEO with mitochondrial myopathy SCTID:725464001|Orphanet:329336|ICD10:G71.3|UMLS:C4511138 owl:Class MONDO:0024283 biolink:NamedThing Demodex folliculitis A demodicidosis that involves the hair follicle. mondoexuq1wtf hair follicle demodicidosis ICD9:133.8|SCTID:240894003|UMLS:C0392666|ICD9:704.8 owl:Class MONDO:0045012 biolink:NamedThing steroid metabolism disease A disease that has its basis in the disruption of steroid metabolic process. mondoexuq1wtf steroid metabolic process disease|disorder of steroid metabolic process|disorder of steroid metabolism|steroid metabolism disease SCTID:28710006|UMLS:C0268283 owl:Class MONDO:0015623 biolink:NamedThing cavitary myiasis Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. mondoexuq1wtf SCTID:764811001|Orphanet:165958|ICD10:B87.8 owl:Class MONDO:0019147 biolink:NamedThing myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. mondoexuq1wtf infestation by fly larvae|myiasis, unspecified|infestation by maggots|maggot infestation ICD10:B87|UMLS:C0027030|DOID:11080|ICD10:B87.9|SCTID:60412004|ICD10:B87.0|EFO:0007389|MESH:D009198|ICD10:B87.4|ICD10:B87.3|MedDRA:10028586|ICD10:B87.8|ICD10:B87.1|ICD9:134.0|ICD10:B87.2|Orphanet:75110|NCIT:C128400 owl:Class MONDO:0024505 biolink:NamedThing disorder by anatomical region A broad grouping of diseases based on major body subdivisions. mondoexuq1wtf disorder of anatomical|disorder of organism subdivision|disease of organism subdivision|disorder by body site|disease by body site UMLS:C1290853|SCTID:123946008 owl:Class MONDO:0011914 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome mondoexuq1wtf HLTS|hypotrichosis-lymphedema-telangiectasia syndrome MESH:C564327|DOID:0111361|UMLS:C1843004|OMIM:607823 owl:Class MONDO:0007670 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome (grouping) Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. mondoexuq1wtf hypotrichosis lymphedema telangiectasia syndrome GARD:0012827|Orphanet:69735 owl:Class MONDO:0006643 biolink:NamedThing alcoholic cardiomyopathy A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. mondoexuq1wtf alcoholic cardiomyopathy|dilated cardiomyopathy secondary to alcohol|alcohol-induced heart muscle disease UMLS:C0007192|EFO:1000801|DOID:12935|NCIT:C53653|ICD10:I42.6|MedDRA:10001616|MESH:D002310|SCTID:83521008|ICD9:425.5 owl:Class MONDO:0002824 biolink:NamedThing extrinsic cardiomyopathy A cardiomyopathy that is not due to abnormalities in heart muscle cells. mondoexuq1wtf secondary cardiomyopathy DOID:3978|ICD9:425.8|SCTID:195029002 owl:Class MONDO:0014787 biolink:NamedThing severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome mondoexuq1wtf Birk-Flusser syndrome|corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia|CCAFCA UMLS:C4225193|OMIM:616819|Orphanet:466688 owl:Class MONDO:0002934 biolink:NamedThing intravascular angioleiomyoma A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. mondoexuq1wtf intravascular angiomyoma|intravascular angioleiomyoma DOID:4266|UMLS:C1334267|NCIT:C5355 owl:Class MONDO:0006646 biolink:NamedThing angioleiomyoma A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. mondoexuq1wtf angiomyoma|angiomyoma (morphologic abnormality)|angioleiomyoma|vascular leiomyoma MESH:D018229|EFO:1000084|UMLS:C0206653|EFO:1000806|ICDO:8894/0|NCIT:C3747|DOID:4265 owl:Class MONDO:0008725 biolink:NamedThing congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. mondoexuq1wtf LCAH|lipoid congenital adrenal hyperplasia|CLAH|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|adrenal hyperplasia 1|congenital adrenal hyperplasia lipoid Orphanet:90790|ICD10:E25.0|OMIM:201710|UMLS:C0342474|GARD:0001465|SCTID:44231009 owl:Class MONDO:0019595 biolink:NamedThing 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect mondoexuq1wtf 46,XY DSD due to adrenal and testicular steroidogenesis defect UMLS:CN227657|Orphanet:90786 owl:Class MONDO:0011285 biolink:NamedThing age related macular degeneration 1 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. mondoexuq1wtf macular degeneration, age-related, 1|ARMD1|maculopathy, age-related, 1|age related macular degeneration type 1|age related maculopathy 1|macular Degeneration, age-related, type 1 MESH:C566411|UMLS:C1864205|OMIM:603075|DOID:0110014 owl:Class MONDO:0021727 biolink:NamedThing aberrant subclavian artery Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. mondoexuq1wtf congenital malposition of subclavian artery|aberrant subclavian artery|aberrant right subclavian artery|aberrant left subclavian artery|congenital malpositioned subclavian artery UMLS:C2936828|MESH:C535555|GARD:0005706|SCTID:93353003 https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery owl:Class MONDO:0044067 biolink:NamedThing candidiasis, invasive A fungal infection by any of the Candida species in a sterile body compartment. mondoexuq1wtf invasive candidiasis|invasive candidiases|candidiases, invasive MESH:D058365|EFO:1001282|NCIT:C116813 owl:Class MONDO:0008140 biolink:NamedThing ossified ear cartilages mondoexuq1wtf ossified ear cartilages OMIM:165670|MESH:C563488|UMLS:C1833791 owl:Class MONDO:0012183 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 3 mondoexuq1wtf melanoma, cutaneous malignant, susceptibility to, 3|melanoma, cutaneous malignant, susceptibility to, type 3|CMM3|susceptibility to cutaneous malignant melanoma 3 OMIM:609048 owl:Class MONDO:0024462 biolink:NamedThing familial cutaneous melanoma An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary cutaneous melanoma (disease) Editor note: consider merge with parent OMIMPS:155600 owl:Class MONDO:0014755 biolink:NamedThing skin creases, congenital symmetric circumferential, 2 mondoexuq1wtf skin creases, congenital symmetric circumferential, type 2|MAPRE2 multiple benign circumferential skin creases on limbs|skin creases, congenital symmetric circumferential, 2; CSCSC2|CSCSC2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2|skin creases, congenital symmetric circumferential, 2 OMIM:616734 owl:Class MONDO:0002255 biolink:NamedThing hypertrophic elongation of cervix mondoexuq1wtf DOID:2251|ICD10:N88.4|UMLS:C0020561|ICD9:622.6|COHD:194088|SCTID:198353000 owl:Class MONDO:0002256 biolink:NamedThing cervix disease A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. mondoexuq1wtf disease of uterine cervix|disorder of uterine cervix|uterine cervix disease|uterine cervix disease or disorder|cervical disorder|disease or disorder of uterine cervix NCIT:C40241|MESH:D002577|SCTID:63339007|UMLS:C0007867|DOID:2253 owl:Class MONDO:0008012 biolink:NamedThing Monophalangy of great toe mondoexuq1wtf Monophalangy of great toe MESH:C563570|UMLS:C1834753|OMIM:158100 owl:Class MONDO:0020240 biolink:NamedThing syndromic retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. mondoexuq1wtf syndrome associated with retinitis pigmentosa|syndromic retinitis pigmentosa UMLS:CN227834|Orphanet:98661 owl:Class MONDO:0014561 biolink:NamedThing 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene. mondoexuq1wtf MGA7|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|3-methylglutaconic aciduria type 7|MGCA7|3-methylglutaconic aciduria caused by mutation in CLPB|3-Methylglutaconic aciduria, type 7|3-methylglutaconic aciduria type VII|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|MEGCANN Present because it is in the OMIM series. EFO:0009014|DOID:0110003|Orphanet:445038|OMIM:616271|UMLS:C4225393|ICD10:E71.1|SCTID:764860006 owl:Class MONDO:0043297 biolink:NamedThing vibrio vulnificus infectious disease An disease or disorder caused by infection with Vibrio vulnificus. mondoexuq1wtf vibrio vulnificus infection|Vibrio vulnificus caused disease or disorder|Vibrio vulnificus infectious disease|Vibrio vulnificus disease or disorder|vibrio vulnificus infectious disease MESH:C536348|UMLS:C1274377|GARD:0009584|SCTID:402965002 owl:Class MONDO:0007014 biolink:NamedThing vibrio infectious disease Infections with bacteria of the genus vibrio. mondoexuq1wtf Vibrio disease or disorder|vibrio infectious disease|Vibrio caused disease or disorder|Vibrio infectious disease UMLS:C0042636|EFO:1001235|MESH:D014735 owl:Class MONDO:0044621 biolink:NamedThing 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. mondoexuq1wtf tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3 Orphanet:485405 owl:Class MONDO:0019991 biolink:NamedThing immunotactoid glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. mondoexuq1wtf Immunotactoid glomerulonephritis|FGN|fibrillary glomerulonephritis Orphanet:97567|SCTID:73305009|ICD10:N03.6|ICD9:583.9|GARD:0012048|NCIT:C96182 https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy owl:Class MONDO:0019605 biolink:NamedThing immunotactoid or fibrillary glomerulopathy Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. mondoexuq1wtf Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy ICD10:N03.6|Orphanet:91137|GARD:0012741 https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy owl:Class MONDO:0018402 biolink:NamedThing female infertility due to gonadal dysgenesis mondoexuq1wtf female infertility due to ovarian dysgenesis|rare female infertility due to gonadal dysgenesis|rare female infertility due to ovarian dysgenesis Orphanet:399877|ICD10:N97.0 owl:Class MONDO:0008145 biolink:NamedThing Ollier disease Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. mondoexuq1wtf multiple cartilaginous enchondroses|enchondromatosis, multiple|enchondromatosis|enchondromatosis, multiple, Ollier type|Ollier's disease|Ollier disease|dyschondroplasia|Kast's syndrome|osteochondromatosis|enchondromatosis with haemangiomata|multiple enchondromatosis OMIM:166000|NCIT:C3008|MedDRA:10014642|UMLS:CN203308|Orphanet:296|ICD10:Q78.4|GARD:0007251|UMLS:C0014084|UMLS:C0206641|SCTID:268274005|DOID:4624 https://rarediseases.info.nih.gov/diseases/7251/ollier-disease owl:Class MONDO:0100280 biolink:NamedThing Waldenstrom macroglobulinemia mondoexuq1wtf Waldenström macroglobulinemia|Waldenstrom macroglobulinemia|lymphoplasmacytic lymphoma with IgM gammopathy|Waldenstrom's syndrome|macroglobulinemia of Waldenstrom|Waldenstrom's macroglobulinaemia|Waldenstrom's macroglobulinemia|Waldenstroem's macroglobulinemia http://orcid.org/0000-0001-5208-3432 ONCOTREE:WM|GARD:0007872|UMLS:C0024419|MESH:D008258|OMIMPS:153600|MedDRA:10047801|Orphanet:33226|ICD10:C88.0|DOID:0060901|NCIT:C80307 owl:Class MONDO:0000432 biolink:NamedThing lymphoplasmacytic lymphoma A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. mondoexuq1wtf lymphoplasmacytic lymphoma|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|Immunocytoma, lymphoplasmacytic type|lymphoma, plasmacytic|lymphoplasmacytoid lymphoma|lymphoma, lymphoplasmacytic, malignant ICD10:C88.0|ICDO:9761/3|ICD9:273.3|DOID:0050747|UMLS:C0334633|ICDO:9671/3|NCIT:C3212|ONCOTREE:LPL owl:Class MONDO:0001355 biolink:NamedThing ocular siderosis A hemosiderosis that involves the camera-type eye. mondoexuq1wtf siderosis of eye|hemosiderosis of camera-type eye|camera-type eye hemosiderosis|siderosis bulbi|siderosis of globe DOID:11754|UMLS:C0271001|SCTID:25277000|ICD10:H44.32|ICD9:360.23 owl:Class MONDO:0005328 biolink:NamedThing eye disease A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. mondoexuq1wtf disease of eye|eye disorder|eyeball of camera-type eye disease|disorder of globe|disorder of eye proper|disorder of eye|disorder of eyeball|disorder of eyeball of camera-type eye|eyeball of camera-type eye disease or disorder|eye disease|disease or disorder of eyeball of camera-type eye|disease of eyeball of camera-type eye|disease of eyeball ICD9:360.89|EFO:0003966|ICD10:H44|ICD10:H44.9|ICD9:360.9|ICD9:360|ICD9:379.8|SCTID:371405004|COHD:375252|DOID:5614|ICD9:379.90|MESH:D005128|UMLS:C0015397|NCIT:C26767 owl:Class MONDO:0020537 biolink:NamedThing occupational allergic alveolitis Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise mondoexuq1wtf Orphanet:99909 owl:Class MONDO:0017853 biolink:NamedThing hypersensitivity pneumonitis Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. mondoexuq1wtf allergic interstitial pneumonitis|alveolitis, extrinsic allergic|allergic pneumonitis|extrinsic allergic alveolitis|Hp|extrinsic allergic pneumonia hypersensitivity pneumonitis|exogen allergic alveolitis|hypersensitivity pneumonitis ICD10:J67.8|ICD10:J67.1|ICD10:J67.2|ICD10:J67.9|Orphanet:31740|ICD10:J67.6|ICD10:J67.5|ICD9:495.9|SCTID:37471005|ICD10:J67.4|ICD10:J67.0|ICD10:J67.7|GARD:0000012|ICD10:J67.3|MedDRA:10001890|ICD9:495.8 owl:Class MONDO:0017370 biolink:NamedThing autoinflammatory syndrome with skin involvement mondoexuq1wtf UMLS:CN203043|Orphanet:290842 owl:Class MONDO:0009958 biolink:NamedThing adult Refsum disease A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. mondoexuq1wtf Refsum's disease|phytanic-CoA hydroxylase deficiency|doc 11 (phytanic acid type)|HSMN IV|Refsum disease with increased pipecolic acidemia|adult Refsum disease due to PHYH|Refsum disease|disorder of cornification 11 (phytanic acid type)|Refsum disease, adult, 1|hereditary motor and sensory neuropathy type 4|heredopathia atactica polyneuritiformis|RDPA|HMSN 4|HMSN type IV|phytanic acid oxidase deficiency|hereditary sensory and motor neuropathy type 4|hypertrophic neuropathy of Refsum|adult Refsum disease|classic Refsum disease|hereditary motor and sensory neuropathy 4|Refsum disease, classic Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 SCTID:25362006|Orphanet:773|ICD9:356.3|MESH:C535517|OMIM:600964|ICD10:G60.1|COHD:4101333|MESH:D012035|GARD:0005691|DOID:10582|MedDRA:10038275|OMIM:266500|UMLS:C1833022|GARD:0004371|ICD9:272.8 https://rarediseases.info.nih.gov/diseases/5691/refsum-disease owl:Class MONDO:0100258 biolink:NamedThing phytanoyl-CoA hydroxylase deficiency Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene. mondoexuq1wtf PHYH related disorder of peroxisomal alpha oxidation|PHYH deficiency|phytanoyl-CoA hydroxylase deficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013802 biolink:NamedThing infantile cerebellar-retinal degeneration Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. mondoexuq1wtf infantile cerebellar-retinal degeneration|ICRD|infantile cerebellar retinal degeneration DOID:0050883|Orphanet:313850|ICD10:E88.8|OMIM:614559|UMLS:C3281192|GARD:0013264 https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration owl:Class MONDO:0014099 biolink:NamedThing nephrotic syndrome, type 8 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. mondoexuq1wtf nephrotic syndrome caused by mutation in ARHGDIA|ARHGDIA nephrotic syndrome|nephrotic syndrome, type 8|NPHS8 DOID:0080389|UMLS:C3808953|OMIM:615244 owl:Class MONDO:0019006 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. mondoexuq1wtf familial idiopathic nephrotic syndrome UMLS:C1868672|ICD10:N04.1|ICD10:N04.8|ICD10:N04.3|UMLS:CN536255|Orphanet:656|UMLS:C4273714|SCTID:718141008 owl:Class MONDO:0001734 biolink:NamedThing tuberous sclerosis Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. mondoexuq1wtf sclerosis, tuberous|bourneville's disease|Bourneville's disease|syndrome, Bourneville's|Bourneville's syndrome|syndrome, Bourneville|adenoma sebaceum|cerebral sclerosis|Bourneville pringle's disease|adenoma sebaceum syndrome|phakomatosis, Bourneville|ts - tuberous sclerosis|TSC|sclerosis, tuberose|Bourneville-Pringles disease|tuberous sclerosis Complex|Bourneville phakomatosis|tuberose sclerosis|Phacomatosis, Bourneville|Bourneville Phacomatosis|Bourneville pringle disease|Bourneville-pringle's disease|Bourneville disease|tuberous sclerosis syndrome|disease, Bourneville-pringle|sclerosis, cerebral|Epiloia|Bourneville syndrome|Bourneville-pringle disease|cerebral Scleroses|tuberous sclerosis|sclerosis Tuberosa|disease, Bourneville-pringle's Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome ICD9:759.5|NCIT:C3424|OMIMPS:191100|DOID:13515|ICD10:Q85.1|SCTID:7199000|MESH:D014402 owl:Class MONDO:0008655 biolink:NamedThing vestibulocochlear dysfunction, progressive mondoexuq1wtf familial progressive vestibulocochlear dysfunction|vestibulocochlear dysfunction, progressive OMIM:193005|MESH:C536346|GARD:0005489|UMLS:C2931176 https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive owl:Class MONDO:0002514 biolink:NamedThing hepatobiliary neoplasm A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. mondoexuq1wtf liver and biliary neoplasm|hepato-biliary tumor|hepatobiliary system neoplasm|neoplasm of hepatobiliary system|hepatobiliary tumor|hepatic, biliary, and gallbladder neoplasms|hepatobiliary system neoplasm (disease)|hepatic and biliary tumors|hepatic and biliary neoplasms|liver and biliary system neoplasm|hepatobiliary tumors|hepato-biliary neoplasm|hepatobiliary system tumor|tumor of hepatobiliary system|hepatobiliary benign neoplasm|hepatobiliary neoplasm NCIT:C8614|EFO:0008550|DOID:3117|UMLS:C0854196 owl:Class MONDO:0025667 biolink:NamedThing limbal stem cell deficiency mondoexuq1wtf UMLS:C1561989|Orphanet:171673 owl:Class MONDO:0000942 biolink:NamedThing corneal disease A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. mondoexuq1wtf cornea disease or disorder|corneal disease|disease or disorder of cornea|disorder of cornea|corneal disorder|cornea disease|disease of cornea ICD9:371.30|UMLS:C0010034|DOID:10124|ICD9:371.9|MESH:D003316|ICD10:H18.9|SCTID:15250008|ICD9:371.89|NCIT:C26731 owl:Class MONDO:0003561 biolink:NamedThing malignant giant cell tumor of soft parts An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. mondoexuq1wtf malignant giant cell neoplasm of soft parts|malignant giant cell tumor of soft parts|malignant Osteoclastoma|giant cell fibrous histiocytoma|malignant giant cell tumor of soft parts (morphologic abnormality)|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|giant cell malignant fibrous histiocytoma DOID:5638|ICDO:9251/3|UMLS:C0334554|NCIT:C8380 owl:Class MONDO:0002402 biolink:NamedThing malignant giant cell tumor A malignant neoplasm characterized by then presence of atypical giant cells. mondoexuq1wtf giant cell tumor, malignant|malignant tumor, giant cell type (morphologic abnormality)|malignant tumor, giant cell type|malignant giant cell tumor|malignant giant cell neoplasm NCIT:C4090|ICDO:8003/3|UMLS:C0334229|DOID:2705 owl:Class MONDO:0007057 biolink:NamedThing acroosteolysis dominant type Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. mondoexuq1wtf Arthrodentoosteodysplasia|Hajdu-Cheney syndrome|serpentine fibula-polycystic kidney syndrome|serpentine fibula-polycystic kidneys syndrome|acroosteolysis with osteoporosis and changes in skull and mandible|HJCYS|serpentine fibula polycystic kidney syndrome|acrodentoosteodysplasia|Cheney syndrome MESH:C537586|OMIM:102500|GARD:0000508|ICD10:M89.5|SCTID:63122002|NCIT:C84745|ICD9:756.59|MESH:C531695|MESH:C535663|UMLS:C2930971|DOID:2736|Orphanet:955|UMLS:C0917715 https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type owl:Class MONDO:0010877 biolink:NamedThing Charcot-Marie-Tooth disease type 5 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. mondoexuq1wtf HMSN 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN5|hereditary motor and sensory neuropathy with pyramidal features|CMT with pyramidal features|hereditary motor and sensory neuropathy type 5|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy V|Charcot-Marie-Tooth disease-pyramidal features syndrome|peroneal muscular atrophy with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy 5 ICD10:G60.0|GARD:0009208|SCTID:76043009|DOID:0080067|UMLS:CN074211|OMIM:600361|Orphanet:64751 owl:Class MONDO:0019064 biolink:NamedThing hereditary spastic paraplegia Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. mondoexuq1wtf HSP|Strümpell-Lorrain disease|French settlement disease|Strumpell-Lorrain disease|FSP|hereditary spastic paraparesis|familial spastic paraplegia|SPG|spastic paraplegia|familial spastic paraparesis Orphanet:685|COHD:192901|DOID:2476|GARD:0006637|NCIT:C140267|ICD9:334.1|OMIMPS:303350|ICD10:G11.4|MESH:D015419|MedDRA:10019903|SCTID:39912006 https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia owl:Class MONDO:0002971 biolink:NamedThing amelanotic melanoma A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. mondoexuq1wtf melanomas, amelanotic|amelanotic melanoma (morphologic abnormality)|amelanotic melanomas|amelanotic melanoma|melanoma, amelanotic, malignant EFO:1001937|MESH:D018328|DOID:4359|UMLS:C0206735|NCIT:C3802|ICDO:8730/3 owl:Class MONDO:0005105 biolink:NamedThing melanoma A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. mondoexuq1wtf malignant melanoma|melanoma, malignant|Naevocarcinoma|melanoma (disease)|melanoma melanoma (disease) ICDO:8720/3|DOID:1909|NCIT:C3224|KEGG:05218|EFO:0000756|MESH:D008545|UMLS:CN971653|HP:0002861|UMLS:C0025202|ONCOTREE:MEL|SCTID:372244006 owl:Class MONDO:0019821 biolink:NamedThing aneurysm or dilatation of ascending aorta mondoexuq1wtf Orphanet:95484|ICD10:Q25.4 owl:Class MONDO:0020293 biolink:NamedThing ascending aorta anomaly mondoexuq1wtf ICD10:Q25.4|Orphanet:98725 owl:Class MONDO:0002039 biolink:NamedThing cognitive disorder A disease affects cognitive processes. mondoexuq1wtf organic mental disorder|cognitive disorder|cognitive disease ICD10:F09|ICD9:294.9|SCTID:443265004|COHD:374009|NCIT:C92196|EFO:1001457|DOID:1561|MESH:D019965 owl:Class MONDO:0011612 biolink:NamedThing glycine encephalopathy Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. mondoexuq1wtf hyperglycinemia, transient neonatal|Glycine synthase deficiency|hyperglycinemia, Nonketotic|non-ketotic hyperglycinemia|GCE|NKA|nonketotic hyperglycinemia|hyperglycinemia nonketotic|glycine encephalopathy|GLYCINE encephalopathy Orphanet:407|DOID:9268|SCTID:237939006|ICD9:270.7|ICD10:E72.5|GARD:0007219|NCIT:C84937|UMLS:C0751748|ICD10:E72.51|OMIM:605899 https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy owl:Class MONDO:0016399 biolink:NamedThing amino acid or protein metabolism disease with epilepsy mondoexuq1wtf Orphanet:225689|UMLS:CN201330 owl:Class MONDO:0001406 biolink:NamedThing peripheral nervous system neoplasm A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. mondoexuq1wtf neoplasms, peripheral nervous system|tumor of PNS|PNS tumor|tumor of peripheral nerve|neoplasm of the peripheral nervous system|tumor of the peripheral nerve|peripheral nervous system neoplasm (disease)|nerve sheath tumors|neoplasms, PNS|PNS neoplasm|peripheral nerve tumor|PNS neoplasms|nerve sheath neoplasm|tumor of peripheral nervous system|peripheral nerve neoplasm|neoplasm of the peripheral nerve|neoplasm of peripheral nerve|neoplasm of PNS|CNS-excluded nervous sys. cancer|neoplasm of peripheral nervous system|tumor of the PNS|neoplasm of the PNS|tumor of the peripheral nervous system|peripheral nervous system tumor|peripheral nervous system neoplasm MESH:D010524|NCIT:C3321|ICD9:239.2|DOID:1192|SCTID:126980002|UMLS:C0031118|ONCOTREE:PNS owl:Class MONDO:0011783 biolink:NamedThing ALG12-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33). mondoexuq1wtf CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|ALG12-congenital disorder of glycosylation|CDG syndrome type Ig|congenital disorder of glycosylation, type Ig|congenital disorder of glycosylation type 1g|congenital disorder of glycosylation type Ig|ALG12-CDG (CDG-Ig)|mannosyltransferase 8 deficiency|CDGIg|CDG Ig|CDG1G|CDG 1G OMIM:607143|DOID:0080559|GARD:0009833|ICD9:271.8|ICD10:E77.8|NCIT:C126873|UMLS:C2931001|Orphanet:79324|SCTID:711155008|MESH:C535745 owl:Class MONDO:0022457 biolink:NamedThing ankyloblepharon filiforme imperforate anus mondoexuq1wtf GARD:0000697 https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus owl:Class MONDO:0019180 biolink:NamedThing hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. mondoexuq1wtf Rendu-Osler disease|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler|Rendu-Osler-Weber disease|telangiectasia, hereditary hemorrhagic|HHT|Osler hemorrhagic telangiectasia syndrome|Osler-Weber-Rendu disease UMLS:C0039445|MedDRA:10019883|GARD:0006626|NCIT:C35064|COHD:313504|ICD10:I78.0|DOID:1270|OMIMPS:187300|MESH:D013683|Orphanet:774|SCTID:21877004|ICD9:448.0 owl:Class MONDO:0019293 biolink:NamedThing skin vascular disease A disease that involves the superficial vasculature. mondoexuq1wtf vascular disease of the skin|disorder of blood vessels affecting skin|vasculature skin disease|vascular disorder of skin|vascular skin disease|superficial vasculature disease|vascular disorders of skin|skin vascular disorder UMLS:C0162819|COHD:316501|MedDRA:10062171|NCIT:C35254|DOID:9540|MESH:D017445|Orphanet:79379|ICD9:709.1|SCTID:11263005 owl:Class MONDO:0005957 biolink:NamedThing setariasis Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. mondoexuq1wtf Setaria disease or disorder|Setaria infectious disease|infectious disease by Setaria|Setaria caused disease or disorder EFO:0007482|UMLS:C0036850|DOID:1079|MESH:D012719|SCTID:4414005 owl:Class MONDO:0005943 biolink:NamedThing Rhabditida infectious disease Infections with nematodes of the order rhabditida. mondoexuq1wtf infection, Rhabditida|Rhabditida infection|Rhabditida infections|infections, Rhabditida UMLS:C0162631|MESH:D017196|EFO:0007468|GARD:0008203 owl:Class MONDO:0018068 biolink:NamedThing trisomy 13 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. mondoexuq1wtf chromosome 13, trisomy 13 complete|trisomy type 13|Patau's syndrome|Patau syndrome|trisomy 13|complete trisomy 13 syndrome|D trisomy syndrome (formerly)|D1 trisomy ICD10:Q91.4|NCIT:C36529|ICD10:Q91.7|ICD9:758.1|UMLS:CN204386|ICD10:Q91.5|SCTID:21111006|Orphanet:3378|DOID:11665|GARD:0007341|UMLS:C0152095|NCIT:C101223|MESH:C536305|MedDRA:10044686|ICD10:Q91.6 owl:Class MONDO:0016068 biolink:NamedThing fibrochondrogenesis Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. mondoexuq1wtf DOID:0060465|ICD10:Q77.7|GARD:0002321|MESH:C562524|SCTID:17144009|Orphanet:2021|OMIMPS:228520 https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis owl:Class MONDO:0005516 biolink:NamedThing osteochondrodysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. mondoexuq1wtf skeletal dysplasia|congenital skeletal dysplasia|osteochondrodysplasia|cartilage development disorder|osteochondrodysplasia syndrome|congenital anomaly of cartilage UMLS:C0029422|SCTID:105985007|EFO:0005571|ICD10:Q78.9|MESH:D010009|ICD9:756.4|GARD:0006051|DOID:2256|NCIT:C84978 owl:Class MONDO:0014176 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). mondoexuq1wtf hypotonia-speech impairment-severe cognitive delay syndrome|infantile hypotonia-psychomotor retardation-characteristic facies syndrome|IHPRF|IHPRF syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies Orphanet:371364|OMIMPS:615419|DC:0000718|ICD10:Q87.8|UMLS:CN204877 owl:Class MONDO:0001270 biolink:NamedThing stone in bladder diverticulum mondoexuq1wtf calculus in diverticulum of bladder UMLS:C0156265|COHD:192965|SCTID:18109005|ICD10:N21.0|DOID:11354|ICD9:594.0 owl:Class MONDO:0007197 biolink:NamedThing bladder diverticulum mondoexuq1wtf bladder diverticulum (disease)|diverticulum - bladder|diverticulum of bladder|bladder diverticulum bladder diverticulum (disease) COHD:195864|HP:0000015|MESH:C562406|ICD9:596.3|OMIM:109820|DOID:11353|ICD10:N32.3|SCTID:197866008 owl:Class MONDO:0004186 biolink:NamedThing cranial nodular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. mondoexuq1wtf cranial pseudosarcomatous fasciitis|cranial nodular fasciitis NCIT:C27248|UMLS:C1333162|DOID:7326 owl:Class MONDO:0024653 biolink:NamedThing skull neoplasm A benign or malignant neoplasm that affects the bones and structures of the skull. mondoexuq1wtf skull tumor|tumor of skull|skull neoplasm|neoplasm of skull|tumor of the skull|neoplasm of the skull NCIT:C3375|UMLS:C0037305|ICD9:239.2|SCTID:126538005 owl:Class MONDO:0005163 biolink:NamedThing simian immunodeficiency virus infection An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus. mondoexuq1wtf Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus infectious disease|Simian immunodeficiency virus disease or disorder EFO:0001675 owl:Class MONDO:0022034 biolink:NamedThing lentivirus infection Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. mondoexuq1wtf Lentivirus Infections|Infections, Lentivirus|Infection, Lentivirus|Disease caused by Lentivirus|Lentivirus Infection|Disease due to Lentivirus UMLS:C0079680|MESH:D016180|EFO:1001357 owl:Class MONDO:0014339 biolink:NamedThing autosomal recessive spinocerebellar ataxia 16 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene. mondoexuq1wtf autosomal recessive spinocerebellar ataxia type 16|autosomal recessive cerebellar ataxia caused by mutation in STUB1|spinocerebellar ataxia autosomal recessive type 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|spinocerebellar ataxia, autosomal recessive type 16|SCAR16 OMIM:615768|ICD10:G11.1|Orphanet:412057|DOID:0080029|UMLS:C4014261 owl:Class MONDO:0015586 biolink:NamedThing benign familial mesial temporal lobe epilepsy Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. mondoexuq1wtf benign FMTLE Orphanet:163717|UMLS:CN226709 owl:Class MONDO:0017704 biolink:NamedThing familial partial epilepsy An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. mondoexuq1wtf hereditary partial epilepsy|epilepsy, partial, familial ICD10:G40.1|GARD:0002173|UMLS:CN227178|Orphanet:309 https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial owl:Class MONDO:0001209 biolink:NamedThing common wart A wart caused by human papillomavirus. It can appear anywhere on the skin. mondoexuq1wtf viral Warts|wart|viral Warts due to papilloma virus|common wart|viral wart|verruca vulgaris ICD10:B07|NCIT:C27087|DOID:11165|ICD9:078.10|UMLS:C0043037|ICD10:B07.8|SCTID:57019003|ICD9:078.19|ICD9:078.1|MESH:D014860 owl:Class MONDO:0024666 biolink:NamedThing benign epithelial skin neoplasm A form of epithelial skin neoplasm without malignant characteristics. mondoexuq1wtf benign skin epithelium tumor|benign epithelial skin neoplasm|epithelial skin neoplasm, benign|benign skin epithelium neoplasm|benign epithelial skin tumor UMLS:C0345981|NCIT:C7341 owl:Class MONDO:0044878 biolink:NamedThing adult germ cell tumor A germ cell tumor that occurs during adulthood. mondoexuq1wtf germ cell tumor of adults|germ cell tumor|Adult germ cell tumor NCIT:C114777 owl:Class MONDO:0007476 biolink:NamedThing familial Dupuytren contracture Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). mondoexuq1wtf plantar fibromas|Dupuytren contracture 1|plantar fibromatosis, familial|Dupuytren contracture SCTID:274142002|OMIM:126900|ICD10:M72.0|GARD:0012165|Orphanet:79142 owl:Class MONDO:0016037 biolink:NamedThing superficial Fibromatosis A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. mondoexuq1wtf superficial Fibromatosis Orphanet:199257|UMLS:C0406571|NCIT:C6814|EFO:1000556|ICD9:729.99|SCTID:238853007|ICD10:M72.8 owl:Class MONDO:0016446 biolink:NamedThing acquired cutis laxa An instance of cutis laxa that is acquired during the lifetime of the individual. mondoexuq1wtf acquired cutis laxa|cutis laxa acquisita Orphanet:228285|SCTID:19726003|UMLS:C0406549 owl:Class MONDO:0016435 biolink:NamedThing acquired dermis elastic tissue disorder with decreased elastic tissue mondoexuq1wtf Orphanet:228221|UMLS:CN226928 owl:Class MONDO:0008073 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. mondoexuq1wtf uromodulin-associated kidney disease|nephropathy, familial, with gout|gouty nephropathy, familial juvenile|hyperuricemic nephropathy, familial juvenile|UMOD familial juvenile hyperuricemic nephropathy|FJHN type 1|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|familial juvenile gouty nephropathy|hyperuricemic nephropathy, familial juvenile 1|familial nephropathy with gout|uromodulin storage disease|familial juvenile hyperuricaemic nephropathy|hyperuricemic nephropathy, familial juvenile, type 1|hyperuricemic nephropathy, familial juvenile, 1|UMOD-associated familial juvenile hyperuricemic nephropathy|HNFJ1|UMOD-related kidney disease|UMOD-associated FJHN Orphanet:209886|UMLS:CN239214|OMIM:162000|GARD:0006806 https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy owl:Class MONDO:0013340 biolink:NamedThing Parkinson disease 5, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. mondoexuq1wtf susceptibility to autosomal dominant Parkinson disease 5|PARK5|young-onset Parkinson disease caused by mutation in UCHL1|Parkinson disease 5, autosomal dominant, susceptibility to|UCHL1 young-onset Parkinson disease UMLS:C3150899|OMIM:613643 owl:Class MONDO:0017279 biolink:NamedThing young-onset Parkinson disease Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. mondoexuq1wtf early-onset Parkinson disease|early-onset Parkinson's disease|YOPD SCTID:715345007|DOID:0060894|Orphanet:2828|ICD10:G20 owl:Class MONDO:0024981 biolink:NamedThing rodent disease Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). mondoexuq1wtf rodent disease|diseases, Rodent|disease, Rodent UMLS:C0035801|MESH:D012376 owl:Class MONDO:0015509 biolink:NamedThing genetic biliary tract disease Genetic biliary tract disease. mondoexuq1wtf genetic biliary tract disease Orphanet:156607|UMLS:CN199642 owl:Class MONDO:0017295 biolink:NamedThing glycerol kinase deficiency, juvenile form Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. mondoexuq1wtf ICD10:E74.8|Orphanet:284411 owl:Class MONDO:0018459 biolink:NamedThing isolated glycerol kinase deficiency Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). mondoexuq1wtf nonsyndromic inborn glycerol kinase deficiency|hyperglycerolemia|nonsyndromic glycerol kinase deficiency|isolated inborn glycerol kinase deficiency Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49 GARD:0002807|Orphanet:408|ICD10:E74.8 owl:Class MONDO:0008143 biolink:NamedThing osteoarthritis susceptibility 1 Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene. mondoexuq1wtf osteoarthritis caused by mutation in FRZB|OS1|osteoarthritis of hip, female-specific, susceptibility to|osteoarthrosis|osteoarthritis susceptibility 1|osteoarthritis susceptibility type 1|Oa|FRZB osteoarthritis OMIM:165720|ICD9:715.90|ICD9:715.98|UMLS:C0029408|SCTID:396275006 owl:Class MONDO:0012337 biolink:NamedThing glaucoma 1, open angle, I mondoexuq1wtf glaucoma 1, open angle, I|GLC1I OMIM:609745|UMLS:C1857852|MESH:C565724 owl:Class MONDO:0018174 biolink:NamedThing hereditary glaucoma Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. mondoexuq1wtf hereditary glaucoma (disease)|glaucoma, hereditary Orphanet:359|MESH:C580055|UMLS:CN227278|GARD:0002486 https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary owl:Class MONDO:0017064 biolink:NamedThing thoracolumbosacral spina bifida aperta mondoexuq1wtf Orphanet:268384|UMLS:CN202423 owl:Class MONDO:0017062 biolink:NamedThing spina bifida aperta mondoexuq1wtf ICD10:Q05.6|ICD10:Q05.9|ICD10:Q05.3|Orphanet:268369|ICD10:Q05.1|ICD10:Q05.7|ICD10:Q05.2|ICD10:Q05.8|SCTID:58557008|UMLS:CN202421|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.0 owl:Class MONDO:0014848 biolink:NamedThing TELO2-related intellectual disability-neurodevelopmental disorder mondoexuq1wtf you-Hoover-Fong syndrome|YHFS EFO:0009061|OMIM:616954|Orphanet:488642|UMLS:C4310778 owl:Class MONDO:0002369 biolink:NamedThing cystadenoma A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. mondoexuq1wtf cystadenoma (morphologic abnormality)|cystadenoma, benign|cystadenoma|cystoma NCIT:C2972|ICDO:8440/0|DOID:2634|MESH:D003537|UMLS:C0010633 owl:Class MONDO:0021077 biolink:NamedThing cystic neoplasm A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma. mondoexuq1wtf cystic tumor|cystic neoplasm UMLS:C1333190|NCIT:C6784 owl:Class MONDO:0006079 biolink:NamedThing ameloblastic carcinoma A rare, cytologically malignant ameloblastoma that may metastasize. mondoexuq1wtf odontoma, ameloblastic, malignant|ameloblastic carcinoma EFO:1000078|ICD10:C41.1|NCIT:C7492|UMLS:C1314678|Orphanet:314422|GARD:0011855 https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma owl:Class MONDO:0021192 biolink:NamedThing odontogenic neoplasm A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. mondoexuq1wtf odontogenic neoplasm|calcareous tooth tumor|tumor of calcareous tooth|neoplasm of calcareous tooth|calcareous tooth neoplasm|calcareous tooth neoplasm (disease)|odontogenic tumor NCIT:C3286|ICDO:9270/1|MESH:D009808|UMLS:C0028880 owl:Class MONDO:0007921 biolink:NamedThing yellow nail syndrome Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. mondoexuq1wtf lymphedema and Yellow nails|Yns|lymphedema with yellow nails|YNS|yellow nail syndrome OMIM:153300|EFO:1001452|ICD9:757.0|ICD9:703.8|Orphanet:662|NCIT:C85238|ICD10:L60.5|GARD:0000184|MedDRA:10048244|UMLS:C0221348|DOID:0050468|MESH:D056684|SCTID:400211001 https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome owl:Class MONDO:0019285 biolink:NamedThing syndromic nail anomaly A nail anomaly that is part of a larger syndrome. mondoexuq1wtf syndrome associated with nail anomaly|syndromic nail anomaly UMLS:CN227613|Orphanet:79370 owl:Class MONDO:0020645 biolink:NamedThing autosomal dominant osteopetrosis Autosomal dominant form of osteopetrosis (disease). mondoexuq1wtf osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease)|OPTA UMLS:C4272579|OMIMPS:607634 owl:Class MONDO:0008411 biolink:NamedThing ulnar-mammary syndrome Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described. mondoexuq1wtf Schinzel syndrome|ulnar-mammary syndrome|Pallister ulnar-mammary syndrome|ulnar-mammary syndrome of Pallister|ums Orphanet:3138|MESH:C536937|DOID:0060614|UMLS:C1866994|ICD9:759.89|GARD:0000118|ICD10:Q71.8|OMIM:181450|SCTID:700211007 https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome owl:Class MONDO:0015853 biolink:NamedThing deficient breast volume or number mondoexuq1wtf Orphanet:180173 owl:Class MONDO:0006853 biolink:NamedThing mesenchymal chondrosarcoma A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. mondoexuq1wtf mesenchymal chondrosarcoma UMLS:C0206637|NCIT:C3737|MESH:D018211|MedDRA:10027389|ICDO:9240/3|ONCOTREE:MCHS|DOID:4545|EFO:1001041 owl:Class MONDO:0006974 biolink:NamedThing small cell sarcoma A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. mondoexuq1wtf small cell sarcomas|small cell sarcoma NCIT:C3746|UMLS:C0206652|EFO:1001184|ICDO:8803/3|MESH:D018228|DOID:3098 owl:Class MONDO:0007621 biolink:NamedThing floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. mondoexuq1wtf floating-Harbor syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|FHS|Pelletier-Leisti syndrome|FLHS|floating-HARBOR syndrome GARD:0006455|OMIM:136140|UMLS:C0729582|ICD10:Q87.8|ICD9:759.89|Orphanet:2044|DOID:0111358|SCTID:312214005|MESH:C537062 https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome owl:Class MONDO:0015329 biolink:NamedThing malformation syndrome with short stature mondoexuq1wtf malformation syndrome associated with short stature|congenital malformation syndrome associated with short stature|congenital malformation syndrome and short stature Orphanet:139021|UMLS:CN199359|SCTID:205808005 owl:Class MONDO:0010184 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblC A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. mondoexuq1wtf methylmalonic acidemia with homocystinuria type cblC|cblC - cobalamin locus c|methylmalonic aciduria and homocystinuria, cblC type|cobalamin c disease|methylmalonic acidemia and homocystinuria, cblC type|cob